nefrНефрологияNephrology (Saint-Petersburg)1561-62742541-9439Pavlov First Saint-Petersburg State Medical University10.24884/1561-6274-2006-10-3-48-54nefr-621Research ArticleОРИГИНАЛЬНЫЕ СТАТЬИ. КЛИНИЧЕСКИЕ ИССЛЕДОВАНИЯORIGINAL ARTICLES. CLINICAL INVESTIGATIONSГЕНЕТИЧЕСКИЕ МАРКЕРЫ НЕФРОТИЧЕСКОГО СИНДРОМА У ДЕТЕЙGENETIC MARKERS OF NEPHROTIC SYNDROME IN CHILDRENПетросянЭ. К.PetrosyanE. K.ЦыгинА. Н.TsyginA. N.ШестаковА. Е.ShestakovA. E.НосиковВ. В.NosikovV. V.Российский государственный медицинский университет, Научный центр здоровья детям, РАМН, Государственный научно-исследовательский институт «Генетика», МоскваRussian Federation2006100320061034854Copyright © Петросян Э.К., Цыгин А.Н., Шестаков А.Е., Носиков В.В., 20062006Петросян Э.К., Цыгин А.Н., Шестаков А.Е., Носиков В.В.Petrosyan E.K., Tsygin A.N., Shestakov A.E., Nosikov V.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://journal.nephrolog.ru/jour/article/view/621

ЦЕЛЬ ИССЛЕДОВАНИЯ. Определить полиморфизм генов IL-4 в промотерной области (С-590Т) и IL-13 в 4-м экзоне (G4257A), NPHS1 в 3-м экзоне (G349A), NPHS2 в 5-м экзоне (G755A) у больных с нефротическим синдромом. ПАЦИЕНТЫ И МЕТОДЫ. Изучение полиморфных маркеров генов IL-4, IL-13, NPHS1 и NPHS2 проводилось у 74 больных с нефротическим синдромом в возрасте от 1 года до 18 лет. Все пациенты были разделены на две большие группы: I группа – 53 ребенка с нефротическим синдромом с минимальными изменениями (НСМИ) и II группа – 21 ребенок с фокально-сегментарным гломерулосклерозом (ФСГС). РЕЗУЛЬТАТЫ. Установлена достоверная ассоциация полиморфного маркера IL-13 с НСМИ (χ 2 =7,64; p<0,05) и полиморфных маркеров NPHS1 (χ 2 =6,25; р<0,05) и NPHS2 с ФСГС (χ 2 =9,18; p<0,05). ЗАКЛЮЧЕНИЕ. Проведенное исследование позволило выявить ассоциации различных генетических маркеров с НСМИ и ФСГС, тем самым подтвердить гипотезу о различных патогенетических механизмах в структуре данных морфологических форм.

THE AIM of the investigation was to define polymorphism of genes IL-4 in the promoter areas (C-590T) and IL-13 in the 4th exone (G4257A), NPHS1 in the 3rd exone (G349A), NPHS2 in the 5th exone (G755A) in patients with the nephrotic syndrome. PATIENTS AND METHODS. Studying the polymorphic markers of genes IL-4, IL-13, NPHS1 and NPHS2 was carried out in 74 patients with the nephrotic syndrome in the age from 1 through 18 years. All patients were divided into two big groups: the first group – 53 children with the nephrotic syndrome with minimal changes (NSMC) and the second group – 21 patients with focal-segmental glomerulosclerosis (FSGS). RESULTS. The authentic association of polymorphic marker IL-13 with NSMC (χ 2 = 7.64; p<0.05) and polymorphic markers NPHS1 (χ 2 = 6.25; p<0.05) and NPHS2 with FSGS was established (χ 2 = 9.18; p<0.05). CONCLUSION. The research has allowed revealing an association of various genetic markers with NSMC and FSGS and thus the hypothesis was confirmed about various pathogenetic mechanisms in the structure of the morphological forms in question.

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The authors declare that there are no conflicts of interest present.