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Cardiac connective tissue dysplasia syndrome in children. Connective tissue dysplasia: main clinical syndromes, diagnosis, treatment

Manifestations vegetative syndrome : headaches, general weakness, pallor, tendency to orthostatic reactions, dissatisfaction with inhalation (hyperventilation syndrome, neurogenic shortness of breath), cold and wet palms, "bear disease" (paroxysmal diarrhea), attacks of unaccountable fear.

Extrasystole against the background of SDTS often acquires psychogenic (neurogenic) features, becoming more frequent (appearing) under stress and anxiety.

There are a number of ECG phenomena and syndromes that, at first glance, are not directly related to TDS, but occur significantly more often with it than outside of it. Namely: incomplete blockade of PNPG, the phenomenon of shortened P-Q, the WPW phenomenon, AV nodal tachycardia, early ventricular repolarization syndrome, migration of the pacemaker through the atria.

4. Blood pressure lability syndrome. It is known that in young patients with DSTS there is a tendency towards decreased blood pressure. Moreover, this can be both within the framework of hypotension, accompanied by unpleasant symptoms, and a variant of the individual norm in the form of asymptomatic arterial hypotension. The tendency to low blood pressure reflects the primary autonomic failure. An increase in blood pressure with TDS can begin after 30 years. The leading psychodynamic mechanism of arterial hypertension in such patients is " anxious hyper-responsibility"Among neurotic complaints, the predominant feeling is tension, excitement, anxiety, resentment, and fear. Somatic complaints include headache, cardialgia. The main one clinical feature Such arterial hypertension is a pronounced lability of blood pressure numbers during the day (“jumps as if for no reason”) and relatively rare damage to target organs (compared to subjects in whom the underlying cause of hypertension is “inhibited anger”).

5. Syncope syndrome. Patients with TDS are more likely to suffer from fainting than people of the same age who do not have this syndrome. Syncope flows through vasovagal mechanism. As a rule, such patients tend to have low blood pressure. Prognosis: favorable.

Vascular damage in DSTS is called - vascular syndrome . CT creates the necessary strong frame and elasticity of the vessel wall. With dysplastic changes, the following types of vascular anomalies are possible:

Aneurysms of arterial vessels,

Ectasia of arteries for a long time,

Pathological tortuosity up to loop formation,

Asymmetry of the diameters of paired arteries,

Weakness of the walls of peripheral veins - venous insufficiency.

Greatest clinical significance has the formation of aneurysms of the aorta and cerebral arteries. In the case of gradual, long-term formation of an aneurysm, symptoms may be absent altogether and may begin with intense retrosternal pain syndrome (with an aneurysm of the ascending aorta), which precedes its rupture by several days or hours, or with a cerebral hemorrhagic stroke (with a rupture of an intracerebral artery aneurysm).

Weakness of the venous wall is a risk factor for early (up to 45-50 years) formation varicose veins veins of the lower extremities. In men, one of the variants of manifestation of venous insufficiency against the background of DSTS is varicose veins veins of the spermatic cord - varicocele, which threatens infertility. However, vascular syndrome can be asymptomatic throughout life - it only increases vascular risks.

A typical misconception regarding SDST: “persons suffering from DSTD have an asthenic constitution and any anomalies of skeletal development” . Asthenic phenotype and skeletal abnormalities occur in no more than 60% of patients with DSTS. In other cases they are affected other organs and systems. The most common combination: prolapse mitral valve(CT dysplasia of the heart) + increased mental vulnerability (CT dysplasia of the brain).

Clinical course of the syndrome. Now let's look at the options natural course SDST. With the exception of rare cases when, for example, there are pronounced skeletal deformities, DSTS is a “pre-disease” and, in fact, is most often not postulated as a diagnosis. In such a situation, the manifestations of DSTD in childhood are not given due attention by doctors - both in adolescence and in mature age“pre-disease” inevitably turns into disease. Since the main purpose of a person is self-realization in the conditions of society, it is on comfortable interpersonal communication that the satisfaction of complex moral and creative needs is based. As mentioned above, people with ADHD have an innate vulnerability of the psyche. In this regard, situations that for most people will be emotionally neutral will turn out to be individually traumatic for a subject with STS. When overcoming difficulties, such an individual will require significantly more moral and volitional efforts. Being in sensitive, stressful situations gradually leads to mental exhaustion and the appearance of neurotic symptoms, which make communication with other people even more difficult. From the position of the subject, the process of his self-realization occurs suboptimally (ineffectively). Stenic negative emotions are directed inward, giving rise to a variety of symptoms. So, one of the most common manifestations of STS is the formation of neurosis, which significantly complicates the individual’s adaptation to society. Neurosis, in the absence of treatment, leads to the manifestation of somatic manifestations: from harmless functional (for example, cardialgia, extrasystole) to organic diseases (for example, malignant tumors).

Some manifestations of DSTS pose an immediate threat to life. Here it is necessary to distinguish between premature death from the known manifestations of SDTS and sudden death (when no more than an hour passes from the moment of the first symptoms of the disease to death). In the first case, the main cause of death is gross disorders of skeletal development chest(keeled or funnel-shaped chest), leading to compression and displacement of the heart. The so-called thoradiaphragmatic heart is formed. Its complication is the development of heart failure with pulmonary hypertension. Thus, without treatment, the lifespan of people with Marfan syndrome most often does not exceed 40 years precisely because of the development of the thoracodiaphragmatic heart. Now, however, due to the advances in plastic surgery, such a complication of SDSD is becoming less common. The second cause of “expected” death in patients with TDS is dissecting aortic aneurysm. However, the risk of developing an aortic aneurysm is small in the absence additional factors risk: smoking and arterial hypertension. The sudden death of a person is always perceived dramatically. It has been established that before the age of 30, sudden death is significantly more common in people with TSD than in those without it. After 30 years, these differences disappear. The main causes of sudden death in patients with TSD: 1) ventricular fibrillation due to channelopathy, which has intermittent (non-constant) ECG manifestations; 2) rupture of a cerebral artery aneurysm→ hemorrhagic stroke; 3) rupture of aortic aneurysm; 4) anomaly of the development of the coronary arteries→ myocardial infarction → fatal complications.

Syndrome correction options. What should others do to prevent the future adult life of a child with ADHD from turning into a series of insurmountable obstacles? Let's consider the answer to this question from the perspective of disease prevention.

Primary prevention(combat the risk factors of TDS): creating conditions for the optimal course of pregnancy. Pregnancy should be desired and take place in a state of mental comfort. A complete protein and vitamin diet is a must. Smoking is excluded.

Secondary prevention(detection of the disease at the asymptomatic stage). If a child detects signs of TSD, the doctor is obliged to notify the parents of the presence of a “pre-disease”. In order to prevent TDS from developing into a disease, or at least to minimize its manifestations in the future, it is recommended to take a whole range of preventive measures:

Regular (3-4 times a week for at least 30 minutes) non-contact isokinetic aerobic physical activity of moderate intensity (table tennis, cycling, swimming, badminton, jogging, walking, exercise with light dumbbells). It strengthens connective tissue, improves its trophism, and prevents the progression of dysplasia.

Attentive attitude to the internal needs of the child. Education only from the position of “soft” power. Considering the increased natural vulnerability of such children, one should avoid verbal rudeness and try not to express sthenic negative emotions in his presence. The development of a child in a humanitarian direction that is not associated with intense communication with other people is encouraged.

Course use of magnesium preparations (4-6 months a year). It has been established that magnesium takes an active part in the metabolism of ST components; it is one of the “cementing” ions in glycosaminoglycans. In DSTS, there is an obligate interstitial magnesium deficiency. Therefore, the use of magnesium preparations is essentially the only etiological therapy for TDS.

Medical examination. This involves regularly conducting certain screening medical diagnostics to identify hidden manifestations of ADHD that are dangerous or potentially life-threatening.

Tertiary prevention(fighting complications of an existing disease). The manifestation of clinical manifestations of DSTS poses the difficult task of “smoothing out” their severity and achieving remission.

For severe manifestations of DSTD (chest deformity, protruding ears), plastic surgery is acceptable.

Autonomic mental disorders are corrected depending on their severity. For mild manifestations, normalization of the work and rest regime, sedatives based on mint and valerian are indicated. In case of severe manifestations (for example, cardioneurosis with panic attacks), psychopharmacological therapy or even observation by a psychotherapist may be needed. It is important to understand that when the “core of personality” has already been formed, the task of psychotherapy (psychopharmacotherapy) is to facilitate the perception of those situations that are stressful for the patient.

Mandatory intake of magnesium supplements (6-8 months a year).

Regular (3-4 times a week for at least 30 minutes) non-contact isokinetic aerobic physical activity of low or moderate intensity (cycling, swimming, jogging, walking, exercise with light dumbbells).

Syndromic therapy for the manifestation of one or another somatic syndrome(arrhythmic, syncope, etc.).

About magnesium deficiency. An important point regarding magnesium deficiency in patients with TDS. It has been proven that the concentration of magnesium in the blood serum does not differ between individuals with and without TDS. In other words, determining serum magnesium concentration in patients with TDS is not informative. However, the level of tissue magnesium is reduced in all patients with TDS – literally by 100%. How to define it? For this, oral fluid is used - a scraping from the oral mucosa containing saliva and epithelial cells. This analysis is highly clinically informative, reflecting actual tissue magnesium concentration. Depending on the level of tissue magnesium, an individual dosage is selected oral medications magnesium

Unfortunately, clinical effectiveness Magnesium preparations for TDS are variable and difficult to predict. One thing can be stated unequivocally: without concomitant magnesium therapy, the effectiveness of other syndromic therapy will be less effective.

Drug intolerance in DSTD. Since DSTS often manifests itself multifocally, the doctor faces the difficult task of correcting its various clinical manifestations. However, as I have pointed out more than once in the review, a subject with connective tissue dysplasia is different hypersensitivity to various exogenous influences. One of the manifestations of such sensitivity is poor tolerance to medications. We are not talking about a classic autoimmune (allergic) antigen-antibody reaction, but about the phenomenon of idiosyncrasy - individual intolerance to a drug. Thus, a paradoxical situation arises: persons who are in dire need of drug therapy(for example, for the purpose of correcting antiarrhythmic or neurotic syndrome), it is subjectively poorly tolerated. As a result, the search for “your” medicine can be significantly delayed; Sometimes one gets the impression that a patient with TSD cannot tolerate “almost everything.” One of the options for selecting medications in such a situation is a very slow titration of dosages: from homeopathic to therapeutic.

Modern medicine has achieved considerable success in understanding the essence, diagnosis and treatment of ADHD. The criterion for the effectiveness of treatment is:

Body weight gain (normal height-weight ratio),

An acceptable degree of socialization for the patient, allowing him to satisfy his creative needs,

An acceptable low level of neuroticism without panic attacks, which does not interfere with effective work,

Normal, average life expectancy.

– a group of clinically polymorphic pathological conditions, caused by hereditary or congenital defects in collagen synthesis and accompanied by impaired functioning of internal organs and the musculoskeletal system. Most often, connective tissue dysplasia is manifested by changes in body proportions, bone deformities, joint hypermobility, habitual dislocations, hyperelastic skin, valvular heart defects, vascular fragility, and muscle weakness. Diagnosis is based on phenotypic characteristics, biochemical parameters, and biopsy data. Treatment of connective tissue dysplasia includes exercise therapy, massage, diet, and drug therapy.

General information

Connective tissue dysplasia is a concept that unites various diseases, caused by hereditary generalized collagenopathy and manifested by a decrease in strength connective tissue all systems of the body. The population frequency of connective tissue dysplasia is 7-8%, but it is assumed that some of its signs and small undifferentiated forms can occur in 60-70% of the population. Connective tissue dysplasia comes to the attention of clinicians working in various medical fields - pediatrics, traumatology and orthopedics, rheumatology, cardiology, ophthalmology, gastroenterology, immunology, pulmonology, urology, etc.

Causes of connective tissue dysplasia

The development of connective tissue dysplasia is based on a defect in the synthesis or structure of collagen, protein-carbohydrate complexes, structural proteins, as well as necessary enzymes and cofactors. The direct cause of the connective tissue pathology under consideration is various types of effects on the fetus, leading to a genetically determined change in the fibrillogenesis of the extracellular matrix. Such mutagenic factors include unfavorable environmental conditions, poor nutrition and bad habits mothers, stress, complicated pregnancy, etc. Some researchers point to the pathogenetic role of hypomagnesemia in the development of connective tissue dysplasia, based on the detection of magnesium deficiency in spectral studies of hair, blood, and oral fluid.

Collagen synthesis in the body is encoded by more than 40 genes, for which over 1,300 types of mutations have been described. This causes a variety of clinical manifestations of connective tissue dysplasia and complicates their diagnosis.

Classification of connective tissue dysplasia

Connective tissue dysplasia is divided into differentiated and undifferentiated. Differentiated dysplasias include diseases with a specific, established type of inheritance, a clear clinical picture, known gene defects and biochemical disorders. The most typical representatives of this group of hereditary connective tissue diseases are Ehlers-Danlos syndrome, Marfan syndrome, osteogenesis imperfecta, mucopolysaccharidoses, systemic elastosis, dysplastic scoliosis, Beals syndrome (congenital contractural arachnodactyly), etc. The group of undifferentiated connective tissue dysplasias consists of various pathologies whose phenotypic characteristics do not correspond to any of the differentiated diseases.

According to the degree of severity, the following types of connective tissue dysplasia are distinguished: minor (in the presence of 3 or more phenotypic characteristics), isolated (localized in one organ) and actually hereditary connective tissue diseases. Depending on the prevailing dysplastic stigmas, 10 phenotypic variants of connective tissue dysplasia are distinguished:

Marfan-like appearance (includes 4 or more phenotypic signs of skeletal dysplasia).
Marfan-like phenotype (incomplete set of features of Marfan syndrome).
MASS phenotype (includes damage to the aorta, mitral valve, skeleton and skin).
Primary mitral valve prolapse (characterized by EchoCG signs mitral prolapse, changes in the skin, skeleton, joints).
Classic Ehlers-like phenotype (incomplete set of features of Ehlers-Danlos syndrome).
Hypermobile Ehlers-like phenotype (characterized by joint hypermobility and associated complications - subluxations, dislocations, sprains, flat feet; arthralgia, bone and skeletal involvement).
Joint hypermobility is benign (includes an increased range of motion in the joints without involvement of the musculoskeletal system and arthralgia).
Undifferentiated connective tissue dysplasia (includes 6 or more dysplastic stigmas, which, however, are not enough to diagnose differentiated syndromes).
Increased dysplastic stigmatization with predominant osteoarticular and skeletal signs.
Increased dysplastic stigma with predominant visceral signs (minor anomalies of the heart or other internal organs).

Since the description of differentiated forms of connective tissue dysplasia is given in detail in the corresponding independent reviews, in what follows we will talk about its undifferentiated variants. In the case when the localization of connective tissue dysplasia is limited to one organ or system, it is isolated. If connective tissue dysplasia manifests itself phenotypically and involves at least one of the internal organs, this condition is considered as connective tissue dysplasia syndrome.

Symptoms of connective tissue dysplasia

External (phenotypic) signs of connective tissue dysplasia are presented constitutional features, abnormalities in the development of skeletal bones, skin, etc. Patients with connective tissue dysplasia have an asthenic constitution: tall stature, narrow shoulders, lack of body weight. Disorders of the development of the axial skeleton can be represented by scoliosis, kyphosis, funnel-shaped or keeled deformities of the chest, juvenile osteochondrosis. Craniocephalic stigmata of connective tissue dysplasia often include dolichocephaly, malocclusion, dental anomalies, gothic palate, nonunion of the upper lip and palate. The pathology of the osteoarticular system is characterized by O-shaped or X-shaped deformation of the limbs, syndactyly, arachnodactyly, joint hypermobility, flat feet, a tendency to habitual dislocations and subluxations, and bone fractures.

On the part of the skin, there is increased extensibility (hyperelasticity) or, on the contrary, fragility and dryness of the skin. Often on it without visible reasons Striae, pigment spots or foci of depigmentation, vascular defects (telangiectasia, hemangiomas) appear. The weakness of the muscular system with connective tissue dysplasia causes a tendency to prolapse and prolapse of internal organs, hernias, and muscular torticollis. From others external signs Connective tissue dysplasia may include microanomalies such as hypo- or hypertelorism, protruding ears, asymmetry of the ears, low hairline on the forehead and neck, etc.

Visceral lesions occur with the involvement of the central nervous system and autonomic nervous system, various internal organs. Neurological disorders accompanying connective tissue dysplasia are characterized by vegetative-vascular dystonia, asthenia, enuresis, chronic migraine, speech impairment, high anxiety and emotional instability. Connective tissue dysplasia of the heart syndrome may include mitral valve prolapse, patent foramen ovale, hypoplasia of the aorta and pulmonary trunk, elongation and hypermobility of the chordae, coronary artery aneurysms, or interatrial septum. A consequence of the weakness of the walls of venous vessels is the development of varicose veins of the lower extremities and pelvis, hemorrhoids, varicoceles. Patients with connective tissue dysplasia are prone to arterial hypotension, arrhythmias, atrioventricular and intraventricular blocks, cardialgia, and sudden death.

Cardiac manifestations are often accompanied by bronchopulmonary syndrome, characterized by the presence of cystic pulmonary hypoplasia, bronchiectasis, bullous emphysema, and repeated spontaneous pneumothorax. Characteristic lesions of the gastrointestinal tract in the form of prolapse of internal organs, esophageal diverticula, gastroesophageal reflux, hiatal hernia. Typical manifestations of pathology of the organ of vision in connective tissue dysplasia are myopia, astigmatism, farsightedness, nystagmus, strabismus, subluxation and dislocation of the lens.

From the urinary system, nephroptosis, urinary incontinence, renal anomalies (hypoplasia, duplication, horseshoe kidney), etc. may be observed. Reproductive disorders associated with connective tissue dysplasia in women can be represented by prolapse of the uterus and vagina, metro- and menorrhagia, spontaneous abortions, postpartum bleeding; Cryptorchidism is possible in men. Persons with signs of connective tissue dysplasia are prone to frequent echocardiography, ultrasound of the kidneys, ultrasound of the abdominal organs), endoscopic (FGDS), electrophysiological (ECG, EEG), radiological (radiography of the lungs, joints, spine, etc.) methods. Identification of characteristic multiple organ disorders, mainly from the musculoskeletal, nervous and cardiovascular systems with high degree probability indicates the presence of connective tissue dysplasia.

Additionally, biochemical blood parameters, the hemostatic system, immune status are examined, and a skin biopsy is performed. As a screening diagnostic method for connective tissue dysplasia, it has been proposed to study the papillary pattern of the skin of the anterior abdominal wall: identifying an unformed type of papillary pattern serves as a marker of dysplastic disorders. Families with cases of connective tissue dysplasia are recommended to undergo medical genetic counseling.

Treatment and prognosis of connective tissue dysplasia

There is no specific treatment for connective tissue dysplasia. Patients are advised to adhere to a rational daily regimen, nutrition, and health-improving physical activity. In order to activate compensatory and adaptive capabilities, courses of exercise therapy, massage, balneotherapy, physiotherapy, acupuncture, and osteopathy are prescribed.

In the complex therapeutic measures, along with syndromic drug therapy, metabolic drugs (L-carnitine, coenzyme Q10), calcium and magnesium drugs, chondroprotectors, vitamin-mineral complexes, antioxidant and immunomodulatory agents, herbal medicine, and psychotherapy are used.

The prognosis of connective tissue dysplasia largely depends on the severity of dysplastic disorders. In patients with isolated forms quality of life may not be affected. Patients with multisystem damage have an increased risk of early and severe disability, premature death, the causes of which may be ventricular fibrillation,

Probably, many have read D. Grigorovich’s short story “The Gutta-percha Boy” or watched the film of the same name. Tragic story little circus performer, described in the work, not only reflected the trends of those times. The writer, perhaps without realizing it, gave a literary description of a painful complex studied by domestic scientists, including T.I. Kadurina.

Not all readers have thought about the origin of these unusual qualities in the young hero and people similar to him.

Nevertheless, a set of symptoms, the leading of which is hyperflexibility, reflects the inferiority of connective tissue.

Where does amazing talent come from and at the same time a problem associated with the development and formation of a child. Unfortunately, not everything is so clear and simple.

The concept itself is translated from Latin as “developmental disorder.” Here we're talking about about disruption of the development of the structural components of connective tissue, leading to multiple changes. First of all, to symptoms from the joint-muscular system, where connective tissue elements are most widely represented.

A major role in the study of connective tissue dysplasia in the post-Soviet space was played by Tamara Kadurina, the author of a monumental and, in fact, the only guide to the problem of its inferiority.

The etiology of connective tissue dysplasia (CTD) is a disease based on a violation of the synthesis of collagen protein, which acts as a kind of framework or matrix for the formation of more highly organized elements. Collagen synthesis occurs in basic connective tissue structures, with each subtype producing its own type of collagen.

What are connective tissue structures?

It should be mentioned that connective tissue is the most represented histological structure of our body. Its diverse elements form the basis of cartilaginous, bone tissue, cells and fibers act as a scaffold in muscles, blood vessels and the nervous system.

Even blood, lymph, subcutaneous fat, iris and sclera are all connective tissue originating from an embryonic base called mesenchyme.

It is easy to assume that a violation of the formation of cells - the ancestors of all these seemingly different structures during the period of intrauterine development, will subsequently have clinical manifestations in all systems and organs.

The appearance of specific changes can occur in different periods life of the human body.

Classification

Difficulties in diagnosis lie in the variety of clinical manifestations, which are often recorded narrow specialists as separate diagnoses. The very concept of DST is not a disease as such in the ICD. Rather, it is a group of conditions caused by a violation of the intrauterine formation of tissue elements.

Until now, there have been repeated attempts to generalize joint pathology, accompanied by multiple clinical signs from other systems.

An attempt to present connective tissue dysplasia as a series of congenital diseases that have similar features and a number of common features, undertaken by T.I. Kadurina in 2000

Kadurina's classification divides connective tissue dysplasia syndrome into phenotypes (that is, according to external signs). This includes:

MASS phenotype (from English - mitral valve, aorta, skeleton, skin);
marfanoid;
Ehlers-like.

Kadurina’s creation of this division was dictated by a large number of conditions that do not fit into the diagnoses corresponding to ICD 10.

Syndromic connective tissue dysplasias

Here, by full right, we can include the classic Marfan and Ehlers-Danlos syndromes, which have their place in the ICD.

Marfan syndrome

The most common and widely known of this group is Marfan syndrome. This is not just a problem for orthopedists. The peculiarities of the clinic often force the child’s parents to contact cardiology. This is what the described gutta-percha corresponds to. Among other things, it is characterized by:

Tall, long limbs, arachnodactyly, scoliosis.
On the part of the organ of vision, retinal detachment, subluxation of the lens, and blue sclera are noted, and the severity of all changes can vary over a wide range.

Girls and boys get sick equally often. Almost 100% of patients have functional and anatomical changes hearts and they become patients in cardiology.

The most typical manifestations will be mitral valve prolapse, mitral regurgitation, dilation and aneurysm of the aorta with possible formation heart failure.

Eulers–Danlos syndrome

This is a whole group of hereditary diseases, the main clinical signs of which will also be joint laxity. To others, very frequent manifestations It is worth attributing skin vulnerability and the formation of wide atrophic scars due to the extensibility of the integument. Diagnostic signs may be:

the presence of subcutaneous connective tissue formations in people;
pain in moving joints;
frequent dislocations and subluxations.

Since this is a whole group of diseases that can be inherited, in addition to objective data, the doctor needs to clarify the family history to find out whether there are similar cases in the pedigree. Depending on the predominant and accompanying symptoms, the classic type is distinguished:

hypermobile type;
vascular type;
kyphoscoliotic type and a number of others.

Accordingly, in addition to damage to the joint-motor system, there will be phenomena of vascular weakness in the form of ruptured aneurysms, bruises, progressive scoliosis, and the formation of umbilical hernias.

Connective tissue dysplasia of the heart

The main objective clinical manifestation for the diagnosis of connective tissue dysplasia syndrome of the heart is prolapse (protrusion) of the mitral valve into the ventricular cavity, accompanied by auscultation of a special systolic murmur. Also in a third of cases, prolapse is accompanied by:

signs of joint hypermobility;
skin manifestations in the form of vulnerability and extensibility on the back and buttocks;
on the part of the eyes are usually present in the form of astigmatism and myopia.

The diagnosis is confirmed by traditional echocardioscopy and analysis of the totality of non-cardiac symptoms. Such children are treated in cardiology.

Other connective tissue dysplasias

It is worth dwelling separately on such a broad concept as undifferentiated connective tissue dysplasia syndrome (UCTD)

Here a general set of clinical manifestations emerges that does not fit into any of the described syndromes. External manifestations come to the fore, allowing one to suspect the presence of such problems. This looks like a set of signs of connective tissue damage, of which there are about 100 described in the literature.

A thorough examination and collection of analysis, especially information about hereditary diseases, are necessary for an accurate diagnosis.

Despite the diversity of these signs, they are united by the fact that the main mechanism of development will be a violation of collagen synthesis with the subsequent formation of pathology of the musculoskeletal system, organs of vision, and heart muscle. In total, more than 10 signs are described, some of them are considered the main ones:

joint hypermobility;
high skin elasticity;
skeletal deformities;
malocclusion;
flat foot;
vascular network.

Minor signs include, for example, anomalies ears, teeth, hernia, etc.

As a rule, there is no clear heredity, but a family history may include osteochondrosis, flat feet, scoliosis, arthrosis, pathology of the organ of vision, etc.

Features of arthritis in children with CTD

Examination of children with signs of arthritis of different origins showed that most of them have signs of DST. Features of articular syndrome caused by weakness of the skeletal system include:

excessive accumulation of exudate in the joint capsule;
damage to the joints of the legs;
mild dysfunction and bursitis formation.

That is, diseases of the articular apparatus tend to have a protracted course and end in arthrosis.

Features of treatment of children with CTD

The principles of treatment for DST are to organize a daily routine, select a special diet, exercise physical therapy and accessible sports and rational psychotherapy.

Daily routine

The effectiveness of treatment largely depends on compliance with the work and rest regime. This is a sufficient night's sleep, a morning contrast shower. Therapeutic exercises should alternate with periods of rest.

It is advisable to rest with your legs elevated to create a flow of blood from the lower extremities.

Sports and physical therapy

Orthopedic correction

If there are orthopedic foot defects, it is recommended to wear orthopedic shoes or use special insoles. For the treatment of loose joints – knee pads and fixation devices for other joints.

Therapeutic massage courses improve muscle trophism and reduce joint pain.

Rational psycho-impact

The neuropsychic lability of such children and their relatives and their tendency to anxiety dictate the need for treatment with psychotherapy.

Medical nutrition

Treatment with diet therapy. Patients are recommended to eat a diet rich in proteins, essential amino acids, vitamins and microelements. Children who do not have gastrointestinal pathologies should try to enrich their diet with natural chondroitin sulfate. These are strong meat and fish broths, jellied meat, aspic, and jelly.

Requires food containing large number natural antioxidants such as vitamin C and E.

This should include citrus fruits, sweet peppers, black currants, spinach, sea buckthorn, chokeberry.

Additionally, foods rich in macro- and microelements are prescribed. IN as a last resort they can be replaced with microelements if the child is picky about food.

Drug therapy

Drug treatment is of a replacement nature. The purpose of using drugs in this situation is to stimulate the synthesis of your own collagen. For this purpose, glucosamine and chondroitin sulfate are used. To improve the absorption of phosphorus and calcium needed by bones and joints, active forms of vitamin D are prescribed.

The term connective tissue dysplasia in children refers to a whole group of pathological conditions characterized by impaired formation and development of connective tissue. Connective tissue dysplasia (CTD) is based on a violation of the synthesis of collagen, a protein that is a kind of matrix for the formation of more complex structures.

This situation leads to the fact that the connective tissue thus formed is unable to withstand the necessary mechanical load. Statistics indicate an increase in patients with DST. According to some data, from 30 to 50% of schoolchildren suffer from this pathology.

Reasons

The causes of disruption of the formation and development of connective tissue are gene mutations. The fact is that connective tissue is present in all organs and tissues of our body, so genetic damage can occur anywhere. This determines the great variety and severity of clinical manifestations.

Classification

All manifestations of this pathology can be divided into 2 large groups:

Differentiated dysplasia. Gene defects in differentiated dysplasia have been well studied, and clinical symptoms clearly expressed. This group includes Marfan syndrome, Ehlers-Danlos syndrome, and osteogenesis imperfecta.
Undifferentiated dysplasia. This diagnosis is made if the signs of pathology do not fit into the framework of differentiated syndromes.

Marfan syndrome

It is the most common of differentiated dysplasias. The cause of the pathology is a defect in the FBN1 gene, which is responsible for fibrillin synthesis. As a result, connective tissue fibers lose their elasticity and strength. The severity of Marfan syndrome can vary greatly. From mild (outwardly practically indistinguishable from ordinary people) to severe, leading to death from heart failure in the first year of life.

It is typical for such people:

Tall.
Long limbs.
Long, thin, hypermobile fingers.
Visual impairment (lens subluxation, blue sclera, myopia, retinal detachment).
Cardiovascular disorders. Most often there is mitral valve prolapse, congenital heart defects, rhythm disturbances, and aortic aneurysm.

Arachnodactyly (spider fingers) in Marfan syndrome

Such patients are under the supervision of several specialists - a cardiologist, ophthalmologist, therapist, orthopedist. They are at high risk of sudden death. Life expectancy depends on the severity of disorders, primarily in the cardiovascular system. Thus, 90% of patients do not live to the age of 45 years.

Ehlers-Danlos syndrome (hyperelastic skin syndrome)

This is a group of hereditary diseases (there are 10 types of this syndrome) characterized by impaired collagen synthesis. Since collagen is present in all organs and tissues, disorders in this pathology are generalized. They capture the cardiovascular, visual, and respiratory systems. The leading sign of Ehlers-Danlos syndrome is skin manifestations.

The skin of such children is delicate, velvety and poorly fixed to the underlying tissues; it easily folds. It is wrinkled on the feet and soles. Very vulnerable, especially after 2 years. The slightest trauma to the skin leads to the appearance of wounds. Such wounds take a very long time to heal, with the formation of scars and pseudotumors.

Osteogenesis imperfecta

In this case, a hereditarily determined mutation leads to disruption of bone tissue formation (osteogenesis). Bones with this pathology have a porous structure, their mineralization is impaired. As a result, patients experience multiple fractures, even with minimal mechanical impact, and in some cases spontaneous. Such children are called “crystal”.

The prognosis of the disease depends on the type of osteogenesis disorders. There are 4 types in total. The most severe are types 2 and 3 genetic abnormalities. The life expectancy of children with osteogenesis imperfecta usually does not exceed several years. Death occurs from the consequences of multiple fractures and septic (infectious) complications.

Undifferentiated dysplasia

Undifferentiated connective tissue dysplasia in children is a connective tissue pathology in which external manifestations and clinical symptoms indicate the presence of a connective tissue defect, but do not fit into any of the currently known genetically determined syndromes (Marfan syndrome, Ehlers-Danlos syndrome , osteogenesis imperfecta syndrome, etc.).

A child with undifferentiated DST may present a lot of nonspecific complaints: headaches, general fatigue, abdominal pain, unstable stool (alternating constipation and diarrhea), bloating, poor vision. Children and especially adolescents with this pathology are prone to anxiety, depression and hypochondria. In adult life this may lead to a decrease social adaptation and restriction of social activity.

Children suffering from CTD often develop infectious diseases respiratory tract– from ordinary acute respiratory infections to pneumonia. Therefore, due to the absence of characteristic complaints, it is important to carefully pay attention to the external symptoms of connective tissue dysplasia in a child.

From the musculoskeletal system:

Hypermobility of joints.
Scoliosis.
Flat feet.
Chest deformities.
Disproportionately long arms and legs.
Various malocclusions.

From the skin:

Hyperelasticity.
Thinness.
Early formation of wrinkles.
Pronounced venous network.
Tendency to traumatization.

Striae in the back area is one of the most common skin signs dysplasia

From the outside cardiovascular system: mitral valve prolapse, right bundle branch block, venous insufficiency, varicose veins. From the organs of vision: retinal angiopathy, blue sclera, myopia. So-called minor skeletal anomalies: sandal-shaped gap on the foot, attached earlobes, diastema (gap between the front teeth).

Diagnosis of connective tissue dysplasia

Differentiated connective tissue dysplasia syndrome in children usually does not cause great difficulties in diagnosis due to the brightness of the clinical picture and the presence of a family predisposition. To confirm the diagnosis, genetic testing is performed. Undifferentiated DST is most often not diagnosed immediately.

Typically, children are observed for a long time by doctors of various specialties: cardiologists, ophthalmologists, gastroenterologists, and therapists. In addition, there are no uniform examination algorithms for this pathology. Typically, the diagnosis is made based on a combination of external signs, clinical manifestations and instrumental diagnostic data. The most significant are:

Echocardiography.
Ultrasound of the abdominal organs and kidneys.
Electrocardiogram.
Electroencephalogram.
X-ray of joints and spine.

Additionally, a skin biopsy and laboratory tests of blood composition may be performed. If there have been cases of connective tissue dysplasia in the family, especially differentiated ones, medical genetic counseling is recommended.

Treatment

There is no specific treatment, as for any genetic pathologies. The main role here is played by adherence to an appropriate lifestyle, timely consultation with a doctor, correction of emerging disorders, and preventive measures.

Nutrition and regimen

In children with CTD, the role of balanced nutrition. Your daily diet must contain enough protein (meat, fish, legumes), foods containing calcium (milk, cottage cheese, cheese), vegetables and fruits. It is better to exclude fast carbohydrates from your diet (white bread, confectionery) and fast food. Daily routine is very important for children with connective tissue dysplasia. Must be:

Full sleep.
Walks in the fresh air, active games, swimming.
Hardening.
A complex of physical therapy that must be done daily.

A physical therapy specialist selects a set of exercises for a child individually

It is necessary to undergo a complete examination every year for timely detection of disease progression and concomitant pathologies. In adolescence, due to severe psycho-emotional instability, most children with DSD often require the help of a psychologist. Children with connective tissue dysplasia should not live in hot climates.

Physiotherapy

It is recommended to have regular massage sessions and spa treatment. Physiotherapy procedures are shown ultraviolet irradiation, acupuncture, salt, iodine-bromine, hydrogen sulfide baths, mud therapy. According to indications, children are prescribed to wear orthopedic shoes, special braces and bandages.

Drug therapy

Symptomatic therapy and metabolic drugs that improve metabolism are usually used. Such as L-carnitine, chondroprotectors (glucosamine in combination with chondroitin), calcium and magnesium preparations, vitamin complexes, omega-3.

Surgical treatment

Surgical intervention in a child may be required in case of severe joint dysplasia - dislocation or fracture. Surgery is also performed to correct malformations of the heart and blood vessels. The operation is performed according to strict indications and is a means of life for the child and the prevention of complications.

Forecast

The prognosis depends on the severity of dysplasia. Timely detection of one or another connective tissue dysplasia syndrome with an integrated approach in most cases results in children with isolated forms favorable prognosis. If you follow all the doctor’s recommendations, your quality of life may not be affected. Patients with severe dysplasia and generalized forms have a high risk of severe complications, disability and early death.

An important condition for effective rehabilitation of patients with various nosological forms of connective tissue dysplasia (CTD) is the correct choice medical supplies: non-medicinal, medicinal or surgical. Many years of experience in dispensary observation of families of patients with various variants of hereditary connective tissue diseases and CTD, analysis of literature data made it possible to formulate the basic principles of treatment for these patients:

Non-drug therapy(adequate regimen, diet, physical therapy, massage, physical and electrical treatment, psychotherapy, spa treatment, orthopedic correction, vocational guidance).

Diet therapy(use of food products enriched with protein, vitamins and microelements).

Drug symptomatic therapy (treatment of pain, improvement of venous blood flow, taking beta blockers, adaptogens, sedatives, hepatoprotectors, surgical treatment etc.).

Pathogenetic therapy(stimulation of collagen formation, correction of disorders in the synthesis and catabolism of glycosaminoglycans, stabilization of mineral and vitamin metabolism, improvement of the bioenergetic state of the body).

An obligatory stage in the management of patients with CTD after a comprehensive examination and diagnosis is a competent conversation between the doctor and the patient before starting rehabilitation therapy. It is necessary to gain the trust of both the patient and his parents in terms of the possibility of significantly improving the quality of life and restoring lost adaptive skills. Experience shows that the doctor should not waste time on this first, extremely important conversation, on which the effectiveness largely depends rehabilitation activities. It is important to correctly and in an accessible form explain to the sick teenager and his parents:

What is connective tissue dysplasia;

What is the role of genetic and environmental factors in its origin;

What changes in the body can it lead to?

What lifestyle should you follow?

How quickly the effect of the therapy occurs and how long it should be carried out;

How often should you do it? instrumental studies;

What are the possibilities of surgical and therapeutic correction;

What are the dangers of playing professional sports and dancing?

What are the restrictions in professional activities?

If necessary, consultation should be held on the issue of marriage and family, suitability for military service, etc. The purpose of this conversation is to instill the idea of the need for the patient’s active participation in treatment, prevention of complications, and identification of symptoms of disease progression. If possible, the patient should be convinced that the changes in connective tissue observed in him require a special lifestyle, the quality of which is largely determined by his efforts in the desire to help himself. It should be remembered that sufficient knowledge about the disease can help the patient look into the future without fear.

Basic principles of non-drug therapy

Daily routine. In the absence of significant functional disorders of leading organs and systems, patients with CTD are shown a general regimen with the correct alternation of work (study) and rest. The exception is patients with osteogenesis imperfecta, who, in order to prevent fractures, need to lead a gentle lifestyle (wear corsets, use crutches, avoid trauma). Patients with osteoarthritis due to DST also require limiting the load on the affected joints. They are not recommended to run, jump, lift and carry heavy objects, squats, fast walking, especially over rough terrain, climbing mountains and walking up stairs. It is advisable to avoid a fixed position, such as prolonged sitting or standing in one position, which impairs blood flow to sore joints. If the joints of the upper extremities are affected, you should limit carrying heavy objects, manually pushing up heavy things, playing musical instruments, and typing on a hard keyboard. Optimal rhythm motor activity for patients with osteoarthritis due to DST, this is a reasonable alternation of load (10-15 minutes) with periods of rest (5-10 minutes), during which the joint should be unloaded in a lying or sitting position. To restore blood circulation after exercise in the same positions, you should perform several movements in the joints (flexion, extension, bicycle).

Therapeutic exercise— indicated for all patients with DST. Regular (3-4 times a week, 20-30 minutes) moderate physical training is recommended, aimed at strengthening the muscles of the back, abdomen, and limbs. Exercises are carried out in a non-contact static-dynamic mode, in a supine position. Physical exercises should not increase the load on the ligamentous-articular apparatus and increase the mobility of the joints and spine. The method of physical therapy should definitely be discussed with a specialist. In this case, it is necessary to take into account the nature of the pathology, clinical, radiological, and biochemical criteria for damage to the musculoskeletal system. It is useful to prescribe sets of exercises performed while lying on your back or stomach. For most patients, hanging and spinal traction, types of contact sports, isometric training, weightlifting, and carrying large loads are contraindicated. Good effect They provide hydrotherapy and therapeutic swimming, which relieves the static load on the spine.

Aerobic training of the cardiovascular system is recommended: dosed walking, skiing, traveling, hiking, jogging, comfortable cycling. Dosed physical activity on exercise machines and exercise bikes, badminton, table tennis, exercises with light dumbbells, and breathing exercises are useful. Systematic physical activity increase the adaptive capabilities of the cardiovascular system. However, if there are signs of its damage - myocardial dystrophy, cardiomyopathy, myxematous degeneration and significant prolapse of the valve leaflets, dilatation of the aortic root - excessive physical or mental stress, participation in any sports competitions is strictly prohibited. All patients with DST should not engage in professional sports and dancing, since excessive loads on functionally defective connective tissue will lead to an extremely rapid onset of its decompensation.

Therapeutic massage- relieves painful muscle spasms, improves blood supply, transmission of nerve impulses, trophism of the trunk muscles and joints. Recently, acupressure with a helium-neon laser beam, which has a biostimulating, analgesic, and sedative effect, has become widespread. Procedures are performed daily or at intervals of one or two days; It is advisable to undergo at least three courses of treatment (15-20 sessions) with an interval of one month. Underwater massage gives favorable results.

Physiotherapeutic treatment is used according to indications. Yes, when osteogenesis imperfecta to accelerate the healing of fractures, for osteoporosis of various origins, electrophoresis of a 5% calcium chloride solution, 4% magnesium sulfate solution, 2% copper sulfate solution or 2% zinc sulfate solution is recommended on the collar area or locally. With the syndrome vegetative-vascular dystonia according to the vagotonic type, which often accompanies DST, a 1% solution of caffeine sodium benzoate, ephedrine hydrochloride or mezatone is used - according to the collar method or according to the method of ion reflexes according to Shcherbak. To stimulate the function of the adrenal cortex, use drug electrophoresis with 1.5% etimizol and DMV on the area of the adrenal glands. To normalize vascular tone, water procedures are prescribed that provide “gymnastics” for blood vessels: general carbon dioxide, pine, hydrochloride, hydrogen sulfide and radon baths. At home, douches, rubdowns, contrast showers, salt-pine and foam baths are available. A very useful physiotherapeutic treatment method is a sauna (air temperature - 100 ° C, relative humidity - 10-12%, duration of stay - 30 minutes), course - 25 sessions over 3-4 months. Magnetic, inductive and laser therapy, electrophoresis with Dimexide (dimethyl sulfoxide), and brine are used quite widely to improve the nutrition of cartilage.

In order to soften dense connective tissue formations (for example, postoperative keloid scars), patients with DST undergo phonophoresis. For this purpose, use Collalysin (collagenase), 0.2% solution of hydrocortisone, water-soluble succinate, lidase; fibrinolysin. Electrophoresis using the 4-electrode method of ascorbic acid, sulfur, zinc, copper is widely used; chromotherapy (green, red matrix) according to the general method.

Psychotherapy. Lability of nervous processes inherent in patients with connective tissue pathology, feelings of anxiety and a tendency to affective states require mandatory psychological correction, because neurotic behavior and suspiciousness greatly influence their attitude to treatment and implementation of medical recommendations. The main goal of therapy is to develop a system of adequate attitudes and consolidate a new line of behavior in the patient’s family.

Spa treatment— allows for comprehensive rehabilitation, including positive impact therapeutic mud, hydrogen sulfide, radon, iodine-bromine baths, saunas, physiotherapy, massage and physical therapy. It is especially effective if this treatment is carried out for at least three years in a row.

Orthopedic correction- carried out using special devices to reduce the load on the joints and spine. These include orthopedic shoes, instep supports, knee pads that can reduce knee joint laxity and cartilage trauma when walking, and elastic bandaging of hypermobile joints.

Surgical treatment of patients with DST is carried out strictly according to indications. Thus, in case of significant hemodynamic disturbances due to prolapse of the valve leaflets, massive aortic aneurysm, valve replacement and replacement of the altered area of the aorta is performed. In cases of severe functional disorders of the cardiovascular and respiratory systems caused by severe deformation of the chest, thoracoplasty is performed. Progressive pain syndrome in patients with DST with severe grade III-IV scoliosis serves as an indication for their surgical treatment. Lens subluxation, complicated by secondary glaucoma, retinal degeneration with the threat of retinal detachment and cataracts are absolute indications for surgical treatment (lens removal). Our practical experience shows that any surgical intervention in patients with pathology of connective tissue metabolism should be performed only against the background of relative clinical and biochemical remission. After surgical treatment, patients should be under the supervision of specialists and receive, along with traditional therapy, drugs that improve connective tissue metabolism.

Lifestyle. For patients with DST Due to a violation of the reparative ability of DNA, staying in hot climates and areas of high radiation is contraindicated. The best place to live is the central belt. It is advisable to exclude stressors and sudden change professional activities. Weather-dependent patients should avoid professional and psycho-emotional overload on unfavorable days. It is important to prevent hypothermia of the upper and lower extremities. During the cold season, always wear gloves and warm socks. Women, especially when working standing, are advised to use compression hosiery(anti-varicose tights 50-70 den).

Professional guidance. Specialties associated with heavy physical and emotional stress, vibration, contact with chemicals and exposure to x-rays.

Basic principles of diet therapy. Diet therapy for patients with connective tissue dysplasia is prescribed only after a preliminary examination by a gastroenterologist and (necessarily!) during a period of relative remission chronic pathology gastrointestinal tract, which, according to our data, was observed in 81.6% of patients with DST. Protein-enriched foods are recommended. Additionally, meat, fish, squid, beans, nuts, protein and fatty acids, and foods containing essential amino acids are prescribed. Food products must be enriched with microelements, vitamins, and unsaturated fatty acids.

Patients without gastroenterological pathology are prescribed strong broths, jellied meat and fish dishes containing a significant amount of chondroitin sulfates several times a week. For the rest, it is advisable to take biologically active supplements (BAS) containing combined chondroprotectors 2-3 times a week. Children with excessive height already from early age Food products (soybean, cottonseed oil, sunflower seeds, lard, pork fat, etc.) are recommended, as well as preparations with a high content of Omega-class polyunsaturated fatty acids, which have an inhibitory effect on the secretion of growth hormone.

Products containing B vitamins are shown - B1, B2, B3, B6, which normalize protein metabolism. A significant amount of vitamins of this group is contained in yeast, germs and shells of wheat, oats, buckwheat, peas, as well as bread made from wholemeal flour, liver, and kidneys.

Food products enriched with vitamin C (fresh rose hips, red peppers, black currants, Brussels sprouts, porcini mushrooms, citrus fruits, etc.) and vitamin E (sea buckthorn, spinach, parsley, leeks, chokeberries, peaches, etc.) are extremely important. , necessary for normal collagen synthesis and possessing antioxidant activity.

According to our data, the vast majority of children with connective tissue dysplasia have a decrease in the level of most macro- and microcollagen-specific bioelements. The most common deficiencies were silicon (100%), selenium (95.6%), potassium (83.5%); calcium (64.1%); copper (58.7%); manganese (53.8%), magnesium (47.8%) and iron (46.7%). All of them take an active part in the mineralization of bone tissue, the synthesis and maturation of collagen. In this regard, food enriched with macro- and microelements is recommended. An important point in diet therapy is maintaining optimal ratios in the diet between calcium and phosphorus (1:1.5), as well as calcium and magnesium (1:0.5), which, as our data indicate, is disturbed in patients with DST. An unbalanced diet can cause a negative balance of calcium and magnesium in the body and lead to even more severe metabolic disorders in the bones. The absorption of calcium is facilitated by the presence of lactose, proteins, citric acid. This process is hampered by phytic acid, which is found in cereals, as well as oxalic acid, phosphates and various fats.

Principles of drug pathogenetic therapy

It is advisable to carry out pathogenetic drug therapy 1-2 times a year, depending on the patient’s condition; Course duration: 4 months.

Stimulation of collagen formation carried out by prescribing drugs such as Piaskledin 300, Solcoseryl, L-lysine, L-proline, vitreous in combination with cofactors for collagen synthesis - vitamins (C, E, group B) and microelements (Magnerot, Magne B6, zinc oxide, zinc sulfate, zinc aspartate, zincite, copper sulfate (Cuprum sulfate, 1% solution), zinc, selenium. Our studies revealed increased excretion of indicators of collagen breakdown (hydroxyproline, pyrilinx D in daily urine, etc.) in 75% of the examined patients with DST.

Chondroprotectors. The most studied are chondroitin sulfate and glucosamine sulfate. Over the past 20 years, dozens of controlled studies have been conducted to study the structure-modifying effects of these drugs. Their participation in the regulation of chondrocyte metabolism (increased synthesis of glycosaminoglycans and proteoglycans) has been proven; suppressing the synthesis of enzymes and increasing the resistance of chondrocytes to the effects of enzymes that damage articular cartilage; in the activation of anabolic processes of the cartilage matrix, etc. The drugs of choice are currently combined chondroprotectors (Arthra, Teraflex, Condronova, Artroflex, etc.). We detected excessive secretion of glycosaminoglycans in daily urine in the majority (81.4%) of the examined patients with DST.

Stabilization of mineral metabolism. To improve the state of mineral metabolism in patients with DST, drugs are used that normalize phosphorus-calcium metabolism: vitamin D2, and according to indications - its active forms: alfacalcidol (Alpha D3-Teva, Oksidevit), vitamin D3 BON, Bonviva, etc. Along with the drugs listed above, they are widely used for the correction of mineral metabolism various drugs calcium, magnesium, phosphorus. When treating with them, it is necessary to monitor the level of calcium, phosphorus in the blood or urine, as well as the activity of alkaline phosphatase in the blood at least once every 3 weeks. It is known that the need for calcium changes at different periods of a person’s life, therefore, when correcting mineral metabolism parameters, age-related factors must be taken into account. daily requirement in calcium.

Correction of the bioenergetic state of the body— is necessary due to the presence of secondary mitochondrial failure in patients with DST. In 80% of the children we examined, a secondary deficiency of total carnitine was detected. Improving the bioenergetic state of the body is facilitated by drugs containing phosphorus compounds: Dimephosphone, Phosphaden, Riboxin, Mildronate, Lecithin, Amber Elixir, Elcar, Carnitene, Coenzyme Q10, Riboflavin, Nicotinamide, etc.

Normalization of peroxidation processes- carried out by prescribing vitamins (C, A, E), Mexidol, citrus bioflavonoids, selenium, glutathione, polyunsaturated fatty acids.

Correction of free amino acid levels in blood serum

In patients with DST, as a rule, there is a decrease in the content of most nonessential and essential amino acids in the blood serum, most often due to impaired absorption through the gastrointestinal tract. Such secondary hypoaminoacidemia cannot but affect their general condition, contributing to a deterioration in the quality of life of patients. We have established a relationship between a decrease in the level of free proline, free leucine and isoleucine, an increase in free hydroxyproline in the blood serum and the severity of the clinical picture. Correction of the level of free amino acids in the blood is carried out through individual selection of diet, amino acid preparations or biologically active additives, containing essential amino acids, as well as vitamins and microelements involved in their metabolism. Most often, in our experience, patients with pathologies of connective tissue metabolism require replacement therapy with lysine, proline, taurine, arginine, methionine and its derivatives, tyrosine and tryptophan. Amino acids are prescribed 30-60 minutes before meals. The duration of one course is 4-6 weeks. Repeated course - according to indications, at intervals of 6 months. Today the doctor has at his disposal a whole series amino acid preparations (Methionine (Methioninum), Glutamic acid (Glutaminicum acidum), Glycine (Glycinum), Dibikor and a whole range of biologically active food additives.

Approximate treatment regimens for sick children with CTD

Depending on the severity of the clinical condition and the severity of biochemical disorders of connective tissue metabolism, it is recommended to carry out 1-2 courses of metabolite correction throughout the year. The duration of treatment is determined individually in each case, but on average it is 4 months with a break between courses of at least 2-2.5 months. If indicated, in the intervals between courses of drug therapy, physiotherapeutic procedures are performed and psychotherapy is carried out. Patients with DST need to constantly follow a regimen, diet, and engage in physical therapy.

I scheme

L-proline. Dose for children aged 12 years and older: 500 mg; take 30 minutes before meals; frequency of administration - 1-2 times a day; duration - 1.5 months; according to indications, a complex of amino acids is prescribed (L-proline, L-lysine, L-leucine at the rate of 10-12 mg per kg of body weight, etc.); frequency of administration 1-2 times a day; duration - 2 months.

Vitamin and mineral complexes such as “Vitrum”, “Centrum”, “Unicap”; dose - depending on age; Duration of treatment: 1 month.

Note: indications for prescribing this treatment regimen are a variety of patient complaints, especially damage to the musculoskeletal system, increased excretion of glycosaminoglycans in daily urine and a decrease in the content of free amino acids in the blood serum.

II scheme

Combined chondroprotector in an age-related dose. Take with meals; wash down a large number water. Duration of treatment is 2-4 months.

Ascorbic acid(in the absence of oxaluria and a family history of urolithiasis) in the form of cocktails (with milk, yogurt, jelly, compote, etc.); dose - 0.5-1.0-2.0 g per day, depending on age; Duration of treatment: 3 weeks.

Amber elixir. Dose depending on age - 1-2 capsules 2 times a day (capsule contains 100 mg succinic acid); Duration of treatment: 3 weeks.

Note: indications for the use of this regimen may include clinical and instrumental signs of damage to the musculoskeletal system, increased excretion of glycosaminoglycans in daily urine; normal levels of free proline and free lysine in blood serum.

III scheme

L-lysine. Dose for children aged 12 years and older: 500 mg; take 30 minutes before meals; frequency of administration - 1-2 times a day; according to indications - a complex of amino acids (L-proline, L-lysine, L-leucine), selected individually; frequency of administration - 1-2 times a day; duration - 2 months.

Vitamin E (preferably the natural form containing alpha-tocopherol or a mixture of tocopherols); dose for children aged 12 years and older and adults - from 400 to 800 IU per day; Duration of treatment: 3 weeks.

Note: the use of this treatment regimen is recommended if there are a variety of patient complaints; clinical and instrumental disorders of organs and systems, a decrease in the content of free amino acids in the blood serum and normal excretion of glycosaminoglycans in daily urine.

The use of the above schemes for individually selected and pathogenetically substantiated correction of identified biochemical disorders in children with CTD is quite possible in outpatient setting and practically does not require additional material and technical investments. Patients with DST require lifelong clinical observation, constant non-drug therapy and systematic courses of metabolic replacement correction.

T. I. Kadurina*, Doctor of Medical Sciences, Professor
L. N. Abbakumova**, associate professor

*Medical Academy postgraduate education,
**St. Petersburg State Pediatric medical academy , Saint Petersburg