Physical-Capacity-Related Genetic Polymorphisms in Children with Cystic Fibrosis

In patients with cystic fibrosis (CF), physical capacity (PC) has been correlated with mortality risk. In turn, PC is dependent on genetic factors. This study examines several polymorphisms associated with PC and healthrelated phenotype traits (VO2peak, FEV1, FVC, PImax and muscular strength) in a group of children with CF (n = 66, primary purpose). The same analyses were also performed in a control group of healthy children (n = 113, secondary purpose). The polymorphisms determined were classified as muscle function polymorphisms (ACE rs1799752; AGT rs699; ACTN3 rs1815739; PTK2 rs7843014 and rs7460; MSTN rs1805086; TRHR rs7832552; NOS3 rs2070744) or energy metabolism polymorphisms (PPARGC1A rs8192678; NRF1 rs6949152; NRF2 rs12594956; TFAM rs1937; PPARD rs2267668; ACSL1 rs6552828). No significant polymorphism/phenotype correlations were detected in children with CF, with marginal associations being observed between NOS3 rs2070744 and VO2peak and FEV1, as well as between PPARGC1A rs8192678 and FEV1. Overall, similar findings were observed in the control group, i.e., no major associations. The PC-related polymorphisms examined seem to have no effects on the PC or health of children with CF.

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Impact of Physiotherapy on Physical Capacity of 7–11-Year-Old Children with Autism Disorder

Reabilitacijos mokslai slauga kineziterapija ergoterapija ◽

10.33607/rmske.v2i11.837 ◽

2020 ◽

Vol 2 (11) ◽

Author(s):

Indrė Labanauskaitė ◽

Agnė Lileikytė ◽

Aistė Vasilionytė ◽

Vilma Dudonienė ◽

Valdas Urbonavičius ◽

...

Keyword(s):

Physical Therapy ◽

Muscle Strength ◽

Children With Autism ◽

Physical Capacity ◽

Control Group ◽

Study Group ◽

Healthy Children ◽

Long Jump ◽

Hand Muscle ◽

Autism Disorder

Research background. Autism is one of the most difficult wide spectrum developmental disorders. Recently, striking increase in the number of autistic children is observed. Physical activation is important for the development and physical fitness of children with autism disorder. Research object – children’s balance, muscle strength and endurance. The aim was to evaluate physical capacity and impact of physiotherapy on balance, muscle strength and endurance in 7–11-yearold children with autism disorder. Methods. The study group consisted of 10 children with autism disorder (8 boys and 2 girls), the control group consisted of 18 healthy children (15 boys and 3 girls). The average age of the study group was 8.90 ± 1.4 years; in the control group 8.94 ± 1.0 years. Balance of children was assessed by Berg Balance Scale, hand grip – by dynamometry, leg muscle strength – by long jump test and squat test, and endurance of abdominal muscle – by sit up test. The results showed that physical condition of children with autism disorder was significantly poorer compared to healthy children: the balance – 43.9 ± 7.82 v. s. 55.4 ± 0.9 points; right hand muscle strength of 5.9 ± 2.06 kg v. s. 12.2 ± 3.43 kg; left – 5.3 ± 1.87 kg v. s 12.1 ± 3.43; long jump 43.0 ± 25.25 cm v. s 132.6 ± 31.87 cm; endurance of abdominal muscles 7.3 ± 2.01 v. s 19.6 ± 4.06 times per 30 s; squats 9.1 ± 4.36 v. s 27.6 ± 7.07 times per 30 s. After applying physical therapy results of all performed tests in children with autism improved significantly: balance to 49.9 ± by 5.45 points, right hand muscle strength to 7.9 ± 2.49 kg, left – 7.5 ± 2.31 kg, long jump to 79.2 ± 39.87 cm, crunches to 11.8 ± 4.54 times, squats to 14.8 ± 4.83 times, but they did not reach the results of healthy children. Conclusion. Balance, muscle strength and endurance of children with autism disorder were significantly lower than those in healthy children. Physical therapy significantly improved physical capacity of autistic children, but the level of healthy children was not reached.Keywords: autism, children, physiotherapy.

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Analysis of Bone Metabolism in Children with Cystic Fibrosis

PRILOZI ◽

10.2478/prilozi-2018-0035 ◽

2018 ◽

Vol 39 (1) ◽

pp. 151-155

Author(s):

Tatjana Jakovska

Keyword(s):

Cystic Fibrosis ◽

Bone Formation ◽

Bone Markers ◽

Formation Rate ◽

Serum Markers ◽

Control Group ◽

Healthy Children ◽

Pediatric Clinic ◽

Significant Difference ◽

The University

Abstract One of the most important CF-related conditions is the bone disease, which is nowadays acknowledged as a significant clinical complication of CF. Imbalance between bone formation and degradation in cystic fibrosis (CF) has become an important issue for developing osteopenia. The aim of the study was to assess bone formation and resorption process with bone markers in children with cystic fibrosis (CF). Materials and methods: The study included 35 clinically stable children with CF who regularly attended the Cystic fibrosis center at the University Pediatric Clinic in Skopje, R. Macedonia. The control group was presented with 21 healthy children at the same age. Serum osteocalcin (OC), β cross laps, 25OHD and PTH were determined by ELISA assays in the CF group (mean age 8.25±SD1.9 y.) and in age-match controls (7.5±1.9 y.). Results: Vitamin D in the CF group was (23.83±10.9 ng/ml versus 25.6±11.53 in the control group, p=0.57), OC (70.88±34.24 ng/ml v.100.02±47.98, p=0.01) βcrosslaps (1.35±0.72 ng/ml v.1.54±0.73, p=0.37) and PTH (37.39±25.5 pg/ml v. 36.76±25.73, p=0.92). In the study, we did not find a significant difference for 25OHD between CF and healthy controls. OC in children with CF correlates significantly with the control and indicates a decreased formation rate whereas resorption rate is normal. Conclusion: Our results suggest that bone turnover in CF is impaired in childhood. Serum markers for bone formation can be used for predicting osteopenia in children with CF.

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Cystic Fibrosis and Family Stress: Effects of Age and Severity of Illness

PEDIATRICS ◽

10.1542/peds.79.2.239 ◽

1987 ◽

Vol 79 (2) ◽

pp. 239-246

Author(s):

Lynn S. Walker ◽

Melissa B. Ford ◽

William D. Donald

Keyword(s):

Cystic Fibrosis ◽

Early Adolescence ◽

Middle Childhood ◽

Age Groups ◽

Severity Of Illness ◽

Illness Severity ◽

Subjective Rating ◽

Control Group ◽

Healthy Children ◽

Relationship Of

Stress and adjustment in mothers of children with cystic fibrosis was compared with that in a control group of mothers of healthy children. Mothers of children in four age groups were included: preschool, middle childhood, early adolescence, and late adolescence. Mothers of children with cystic fibrosis did not report significantly higher levels of stress than did the control group mothers; nor did they report greater feelings of inadequacy as parents. However, mothers of children with cystic fibrosis in two age groups, preschool and early adolescence, scored higher on a measure of depression than did mothers of healthy children in the same age groups. The relationship of illness severity to maternal stress and adjustment was examined in the cystic fibrosis group. The mother's subjective rating of the child's illness severity was a better indicator of her reported stress than was the Shwachman clinical rating. It appears that many mothers are able to adapt to the presence of cystic fibrosis in the family, although certain periods in the child's life and perceived increases in illness severity are associated with increased maternal distress.

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FEATURES OF THE CYSTIC FIBROSIS COURSE IN CHILDREN DEPENDING ON THE INTERLEUKIN-4 GENE MUTATION

Inter Collegas ◽

10.35339/ic.5.2.73-79 ◽

2018 ◽

Vol 5 (2) ◽

pp. 73-79

Author(s):

N. Drobova

Keyword(s):

Cystic Fibrosis ◽

Staphylococcus Aureus ◽

Gene Mutation ◽

Immunoglobulin E ◽

Immunoglobulin A ◽

Gene Mutations ◽

Interleukin 4 ◽

Total Serum ◽

Control Group ◽

Healthy Children

FEATURES OF CYSTIC FIBROSIS COURSE IN CHILDREN DEPENDING ON INTERLEUKIN-4 GENE MUTATION Drobova N. M. Cystic fibrosis (CF) course features depend not only on the difference in CF transmembrane conductance regulator gene mutations, but also on other gene modifiers. Interleukin-4 (IL-4) gene is a one of gene modifiers. The aim of the present study was to improve medical care for patients with CF by clarifying the pathogenic role of IL-4 gene polymorphism in the course of the disease. The study involved examination of 42 children with CF and 54 practically healthy children as control group. Patient examination was carried out by the standard methods in the remission period. Determination of C589T polymorphism of IL-4 gene was carried out using polymerase chain reaction in real time. DNA was isolated from buccal epithelium cells. Patients with IL-4 gene mutation (C589T) were characterized by more frequent primary manifestation of the respiratory signs, Staphylococcus aureus predominance within respiratory pathological microorganisms, the incidences of bronchiectasis and lung fibrosis, more severe liver lesions, elevated total serum immunoglobulin E level, elevated levels of the CD25 lymphocytes, circulating immune complex and reduced immunoglobulin A levels. The data demonstrate features of CF phenotype associated with IL-4 gene polymorphism.Key words: children, cystic fibrosis, clinical and paraclinical features, interleukin-4 gene mutation. ОСОБЛИВОСТІ ПЕРЕБІГУ МУКОВІСЦИДОЗУ У ДІТЕЙ ЗАЛЕЖНО ВІД МУТАЦІЇ ГЕНУ ІНТЕРЛЕЙКІНУ-4Дробова Н.М.Перебіг муковісцидозу (МВ) залежить не тільки від мутації гену трансмембранного регулятора МВ, але й від інших генів-модифікаторів. Одним з таких факторів виступає ген інтерлейкіну-4 (ІЛ-4). Метою дослідження стало удосконалення медичної допомоги хворим на МВ шляхом уточнення патогенетичної ролі поліморфізму гену-модифікатора запалення ІЛ-4 у перебігу хвороби. Під спостереженням знаходилося 42 дитини з діагнозом МВ. Контрольну групу склали 54 практично здорових дітей, рандомізованих за віком. Обстеження пацієнтів проводилося згідно стандартних методик. Визначення поліморфізму C589T гена IL-4 проводили з використанням полімеразної ланцюгової реакції в реальному часі. ДНК виділяли з клітин букального епітелію. Для хворих на МВ з мутацією гену ІЛ-4 С589Т характерно більш часта маніфестація легеневих проявів, вища частота зустрічаємості бронхоектазів та пневмофіброзу легенів, циротичних змін паренхіми печінки, переважання Staphylococcus aureus у бактеріальному пейзажі мокротиння, підвищення загального імуноглобуліну E, лімфоцитів CD25, циркулюючих імунних комплексів та зниження імуноглобуліну A. Охарактеризовано фенотип МВ залежно від наявності мутації гену-модифікатору запалення ІЛ-4.Ключові слова: діти, муковісцидоз, клініко-параклінічні особливості, мутація гену інтерлейкіну-4. ОСОБЕННОСТИ ТЕЧЕНИЯ МУКОВИСЦИДОЗА У ДЕТЕЙ В ЗАВИСИМОСТИ ОТ МУТАЦИИ ГЕНА ИНТЕРЛЕЙКИНА-4Дробова Н.М.Течение муковисцидоза (МВ) зависит не только от мутации гена трансмембранного регулятора МВ, но и от других генов-модификаторов. Одним из таких факторов выступает ген интерлейкина-4 (ИЛ-4). Целью исследования явилось усовершенствование медицинской помощи больным МВ путем уточнения патогенетической роли полиморфизма гена-модификатора воспаления ИЛ-4 в течении болезни. Под наблюдением находилось 42 ребенка с диагнозом МВ. Контрольную группу составили 54 практически здоровых ребенка, рандомизированных по возрасту. Обследование пациентов проводилось согласно стандартных методик. Определение полиморфизма C589T гена IL-4 проводили с использованием полимеразной цепной реакции в реальном времени. ДНК выделяли из клеток буккального эпителия. Для генотипа ИЛ-4 с мутацией С589Т у больных МВ характерно более частая манифестация легочных проявлений, высокая частота встречаемости бронхоэктазов и пневмофиброза легких, цирротических изменений паренхимы печени, преобладание Staphylococcus aureus в бактериальном пейзаже мокроти, повышение общего иммуноглобулина E, CD25, циркулирующих иммунных комплексов и снижение иммуноглобулина A. Охарактеризованы фенотип МВ в зависимости от наличия мутации гена-модификатора воспаления ИЛ-4.Ключевые слова: дети, муковисцидоз, клинико-параклинические особенности, мутация гена интерлейкина-4.

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The Level of Physical Activity, Lung Function and Exercise Capacity of Children and Adolescents With Cystic Fibrosis Compared to Healthy Controls

10.21203/rs.3.rs-20362/v1 ◽

2020 ◽

Author(s):

Marjane Cardoso ◽

Caroline Jacoby Schmidt ◽

Gabriela Motter ◽

Gabrielle Costa Borba ◽

Tatiana Helena Rech ◽

...

Keyword(s):

Physical Activity ◽

Cystic Fibrosis ◽

Lung Function ◽

Children And Adolescents ◽

Functional Capacity ◽

Control Group ◽

Healthy Children ◽

Healthy Controls ◽

Cross Sectional ◽

Significant Difference

Abstract Background : people with Cystic Fibrosis (CF) have progressive limitation to physical exercise and reduced daily living activities. Regular physical activity (PA) and exercise contribute to the quality of live of people with CF. The objective of this study was to evaluate level of PA , lung function and functional capacity in children and adolescents diagnosed with CF and compare them with those of healthy children and adolescents. Methodology: the study had a cross-sectional design with a control group. Patients with CF were followed at the Children’s Pneumology Outpatient Clinic, and were matched for age and sex with healthy controls from a local public school. The evaluations included daily step count, the shuttle walk test and spirometry. Results: 70 children and adolescents were evaluated, 35 diagnosed with CF and 35 healthy controls. The overall mean age was 11.6±2.9 years. There was no significant difference in level of PA between the patient and control groups. Gender analysis revealed no significant difference in level of PA between the groups or within the CF group. The CF group values were significantly lower than the control group for BMI (p=0.04), percentage of predicted FEV 1 and FEV 1 Z-score (p=0.02 and p=0.010). Conclusion: In this sample, children and adolescents with CF had the same level of PA as their healthy peers. Boys and girls with CF had similar level of PA when stratified by sex, as well as when compared to healthy peers of the same gender. Differences were observed between BMI, FEV 1 and some functional capacity test variables between the groups.

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Assessment of Right Heart Functions in Children with Mild Cystic Fibrosis

Klinische Pädiatrie ◽

10.1055/a-1341-1698 ◽

2021 ◽

Author(s):

Aynur Guliyeva ◽

Erkan Cakir ◽

Hakan Yazan ◽

Lina AlShadfan ◽

Rasul Sharifov ◽

...

Keyword(s):

Cystic Fibrosis ◽

Pulmonary Artery ◽

Right Ventricle ◽

Patient Group ◽

Control Group ◽

Healthy Children ◽

Standard Data ◽

Wide Range ◽

Ventricular Ejection Time ◽

Diastolic Functions

Abstract Background Cystic fibrosis (CF) is a multisystemic disease that prevalently involves the lungs. Hypoxemia occurs due to the existing of progressive damage to the pulmonary parenchyma and pulmonary vessels. The condition may cause systolic and diastolic dysfunction to the right ventricle due to the effects of high pulmonary artery systolic pressure (PASP). The study aimed to determine echocardiographic alterations in PASP, right ventricle (RV) anatomy, and functions in mild CF children. Materials and Methods RV anatomy, systolic, and diastolic functions were evaluated with conventional echocardiographic measurements. Estimated PASP was used measured with new echocardiographic modalities, including pulmonary artery acceleration time (PAAT), right ventricular ejection time (RVET), and their ratio (PAAT/RVET). The obtained echocardiographic data were statistically compared between the patient group and the control group. Results The study consisted of 30 pediatric patients with mild CF and 30 healthy children with similar demographics. In patient group, conventional parameters disclosed differences in RV anatomy, both systolic and diastolic functions of RV compared with the healthy group. We did not compare the patient group with published standard data because of the wide range variability. However, new echocardiographic parameters showed notable increase in pulmonary artery pressure compared with values of control group and published standard data (p<0.001). Conclusion Elevated PASP, RV failure, and Cor pulmonale usually begin early in children with mild CF. In addition to routine echocardiographic measurements to evaluate RV, we recommend the use of new echocardiographic modalities for routine examinations and in the follow up of children with mild CF.

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Dietary Intake of Healthy Children With Cystic Fibrosis Compared With Normal Control Children

PEDIATRICS ◽

10.1542/peds.90.4.547 ◽

1992 ◽

Vol 90 (4) ◽

pp. 547-553

Author(s):

Jean L. Tomezsko ◽

Virginia A. Stallings ◽

Thomas F. Scanlin

Keyword(s):

Cystic Fibrosis ◽

World Health Organization ◽

Normal Control ◽

Pancreatic Enzyme ◽

World Health ◽

Calorie Intake ◽

Control Group ◽

Healthy Children ◽

Control Subjects ◽

Health Organization

Because a low calorie intake may result in growth failure and malnutrition in patients with cystic fibrosis (CF), the dietary and energy intakes of 22 children CF who had mild lung disease and excellent Shwachman scores were examined and compared with those of 23 normal control subjects similar in age (5 to 10 years), gender, and weight. The children with CF consumed ficantly more calories than the controjectsl Calorie intake was 111 ± 19.9% (mean ± SD) of estimated requirements (World Health Organization recommendations) for the CF group and 97 ± 18.7% for the control group (P = .014). Calories consumed per kilogram of body weight were 117% of World Health Organization (CF) vs 97% (control) (P = .009). Calorie intake compared to the 1989 Recommended Dietary Allowance was 106 ± 20.6% for the CF group vs 93 ± 19.1% for the control group. Fat consumed as a percent of total calories was similar: 33.5% (CF) vs 32.2% (control). All children with CF had pancreatic insufficiency and, on average, consumed a large number of pancreatic enzyme supplements, resulting in dietary fat absorption of 86 ± 12%. It is concluded that these children with CF were able to maintain normal growth and energy stores on a diet that was relatively high in calories compared to control subjects and moderate in percent fat, along with an aggressive pancreatic enzyme supplement regimen.

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Disorder of the Longitudinal Limb Growth and Muscular Contractility

Annals of the Russian academy of medical sciences ◽

10.15690/vramn.v70.i4.1411 ◽

2015 ◽

Vol 70 (4) ◽

pp. 450-455

Author(s):

V. A. Schurov

Keyword(s):

Muscular Strength ◽

Lower Limbs ◽

Longitudinal Growth ◽

Growth Delay ◽

Control Group ◽

Growth Disorders ◽

Healthy Children ◽

Healthy Individuals ◽

Before And After ◽

And Gender

Background: The reduction of the muscular contractility in the patients after operative lengthening of the limb with delayed growth is the main factor limiting the volume of orthopaedic treatment.Objective: Our aim was to study the dependence of the muscular contractility of the femur and tibia on their longitudinal sizes in healthy individuals and patients of various age and in the patients with different variants of natural growth disorders of one of the lower limb before and after its operative lengthening according to Ilizarov.Methods: Maximal torque of various groups of the femoral and tibial muscles was evaluated in 78 patients aged from 4 to 40 years with delayed longitudinal growth from 3 to 12 cm of one of the lower limbs using original dynamometers. Control group included 424 healthy children aged from 7 to 15 years and 36 persons aged from 18 to 35 years.Results: The dependence of maximal torque of various groups of the femoral and tibial muscles on their longitudinal sizes in healthy individuals and patients of various ages and gender as well as in the patients with growth disorders before and after their operative lengthening was presented. The affected limb muscular strength and the same of the intact one reduced every cm of the longitudinal growth delay (for instance, the posterior tibial muscle for 3.2 and 1.7 Nm correspondingly).Conclusion: Compensatory increase of the muscular strength in the contralateral femur was found only in significant reduction of the muscular contractility of the affected tibia. In equal amount of the tibial shortening its muscular strength reduced relatively more in the patients with congenital disease and consequences of the osteomyelitis and less in trauma cases.

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Serum chemerin level, cytokine profile and nutritional status in children with cystic fibrosis

Acta Biochimica Polonica ◽

10.18388/abp.2019_2858 ◽

2019 ◽

Author(s):

Katarzyna Sznurkowska ◽

Katarzyna Kaźmierska ◽

Tomasz Śledziński ◽

Maciej Zagierski ◽

Anna Liberek ◽

...

Keyword(s):

Cystic Fibrosis ◽

Nutritional Status ◽

Interleukin 10 ◽

Fat Free Mass ◽

Control Group ◽

Healthy Children ◽

Mass Percentage ◽

Tnf Α ◽

Significant Difference ◽

Factor Α

Background: Cystic fibrosis (CF) is characterized by malnutrition and chronic inflammation predominantly occurring in lungs. Evidence suggests a relation between inflammatory activity and nutritional status. Proinflammatory cytokines, playing crucial role in pulmonary destruction in CF, are regarded as a component of the pathogenesis of illness-related malnutrition. Chemerin - a novel marker of a crosstalk between nutrition and inflammation, has not been investigated in children with cystic fibrosis. The aim of this study was to determine serum level of chemerin, interleukin-1b (IL-1b), interleukin-6 (IL-6), tumor necrosing factor α (TNF-α) and interleukin-10 (IL-10) and to verify if they correlate with the nutritional status in children with CF. Methods: The study included 72 pediatric patients with cystic fibrosis. The control group was comprised of 30 healthy children. Nutritional status parameters: Body Mass Index (BMI), fat mass percentage (FM %) and fat free mass percentage (FFM%) have been assessed in all the subjects basing on bioimpedance and anthropometry according to Slaughter. Serum concentrations of chemerin and cytokines were estimated with ELISA. Results: No statistically significant difference in serum chemerin was found between the studied and the control group. We have documented a significantly higher level of IL-1b, IL-6, TNF-α and IL-10 in CF patients when compared to healthy controls. Neither the chemerin nor the cytokine levels correlated with parameters of nutritional status in our cohort. No statistically significant correlation was found between the serum chemerin and the inflammatory cytokines: IL-1b, IL-6, and TNFα. Conclusions: Our results show that chemerin is not associated with the nutritional status in children with cystic fibrosis. Chemerin has no impact on the levels of IL-1b, IL-6, TNFα in CF patients. IL-1b, IL6, TNFα and also IL10 are upregulated in cystic fibrosis.

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ПОЛИМОРФНЫЕ ВАРИАНТЫ ГЕНОВ МАТРИКСНЫХ МЕТАЛЛОПРОТЕИНАЗ У ДЕТЕЙ С АТОПИЧЕСКИМ ДЕРМАТИТОМ

Rossiiskii Allergologicheskii ZHurnal ◽

10.36691/raj.2019.2.42285 ◽

2019 ◽

pp. 33-37

Author(s):

O.E. Semernik ◽

A.A. Lebedenko ◽

T.P. Shkurat ◽

E.V. Mashkina ◽

T.K. Dreyzina

Keyword(s):

Practical Interest ◽

Control Group ◽

Special Role ◽

Healthy Children ◽

Genetic Studies ◽

Polymorphic Variants ◽

Polymerase Chain ◽

Mmp9 Gene ◽

Significant Polymorphism

Обоснование. Матриксные металлопротеиназы (MMP) играют особую роль в патогенезе атопического дерматита (АтД). Поэтому исследование особенностей наследования генов, отвечающих за синтез ММП у детей, страдающих АтД, представляет большой научный и практический интерес. Цель. Изучить роль полиморфных вариантов генов матриксных металлопротеиназ (ММР9 и ММР20) в патогенезе АтД у детей. Материалы и методы. Методом аллельспецифичной полимеразной цепной реакции проведено исследование аллельных вариантов 320AC гена MMP20, 837C гена MMP20, 8202 AG гена MMP9 у детей с АтД. Контрольную группу составили пациенты I и 11а групп здоровья соответствующего пола и возраста. Результаты. Результаты проведенных генетических исследований показали, что частота встречаемости аллелей и генотипов по полиморфизмам 320AC гена MMP20,837rYC гена MMP20 среди больных не имела достоверных отличий от группы контроля (р0,05). При изучении полиморфизма 8202 AG гена MMP9 установлено, что среди детей, страдающих АтД, преобладает А/Агенотип с частотой 69,2, тогда как в группе здоровых детей частота данного генотипа в 3 раза ниже (р0,003). В группе контроля преобладающим является A/Gгенотип (55,7), а носителей G/Gгенотипа в 2 раза меньше (21,3). Важно отметить, что у детей с генотипом А/А риск развития АтД повышен в 7,55 раза (OR7,55 95 Cl 2,9719,21 р0,001. Заключение. Таким образом, можно предположить, что наиболее значимым полиморфизмом в патогенезе АтД у детей является 8202AG гена MMP9, а именно у гомозигот по Ааллели риск развития кожных проявлений аллергии повышен более чем в 7 раз.Matrix metalloproteinases (MMP) play a special role in the pathogenesis of atopic dermatitis (AD). Therefore, the study of the features of genes responsible for the synthesis of MMP in children with AD is of great scientific and practical interest. Background. To study the role of polymorphic variants of matrix metalloproteinase genes (MMP 9 and MMP20) in the pathogenesis of AD in children. Materials and methods. Allelic variants of320AC gene MMP20,837TC gene MMP20, 8202 AG gene MMP9 in children with AD were studied using the method of allelespecific polymerase chain reaction. The control group consisted of I and IIa the health groups patients of the corresponding sex and age. Results. The results of genetic studies showed that the incidence of alleles and genotypes in the polymorphisms 320AC of the gene MMP20, 837TC of the gene MMP20 in patients had no significant differences from the control group (p0.05). It was established that the A/Agenotype of polymorphism 8202 AG of the MMP9 gene, prevailed among children suffering from AD at a frequency of 69.2, whereas in the group of healthy children the frequency of this genotype was 3 times lower (p0.003). At the same time A/Ggenotype (55.7) was predominant in the control group, while G/G genotype was 2 times lower (21.3). Thus the risk of AD increased by 7.55 times (OR7.55 95 Cl 2.9719.21 p0.001 in children with genotype A/A. Conclusion. The most significant polymorphism in the pathogenesis of AD in children is 8202 AG of the MMP9 gene, in particular the risk of developing of skin manifestations of allergy is increased by more than 7 times in Aallele homozygotes.

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