nidНефрология и диализNephrology and Dialysis1680-44222618-9801Российское диализное обществоnid-796Research ArticleОРИГИНАЛЬНЫЕ СТАТЬИORIGINAL ARTICLESПолиморфные маркеры гена нефрина ( NPHS1) при спорадическом стероид-резистентном нефротическом синдроме у детейПриходинаЛ. С.PrikhodinaL. S.prikhodina@rambler.ruРыжковаО. П.RyzhkovaO. P.noemail@neicon.ruПоляковА. В.PolyakovA. V.noemail@neicon.ruФГБУ «МНИИ педиатрии и детской хирургии» Минздравсоцразвития РоссииРоссияMoscow Research Institute of Pediatry and Children Surgery, Russian Ministry of HealthRussian FederationГУ Медико-генетический научный центр РАМН, МоскваРоссияMedico-genetical Research Centre, the Russian Academy of Medical Sciences, MoscowRussian Federation2012170620251415662Copyright © Приходина Л.С., Рыжкова О.П., Поляков А.В., 20252025Приходина Л.С., Рыжкова О.П., Поляков А.В.Prikhodina L.S., Ryzhkova O.P., Polyakov A.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.nephro.ru/jour/article/view/796

В статье представлены результаты когортного исследования потенциальных ассоциаций полиморфных маркеров гена нефрина ( NPHS1 ) с эффективностью иммуносупрессивной терапии и прогрессированием спорадического стероид-резистентного нефротического синдрома (СРНС) у детей. Обследовано 53 ребенка с первичным несемейным СРНС в возрасте 16,0 (12,0; 17,0) лет, включая 49,1% больных с фокально-сегментарным гломерулосклерозом, 22,6% – с мезангио-пролиферативным гломерулонефритом, 15,1% – с мембрано-пролиферативным гломерулонефритом, 7,5% – с мембранозной нефропатией и 5,7% – с нефротическим синдромом с минимальными изменениями. Установлена низкая частота гетерозиготных мутаций в гене NPHS1 у детей со спорадическим СРНС, составляющая 1,9%. У 58,5% пациентов идентифицировано 4 вида полиморфных маркеров гена NPHS1 , преимущественно в гетерозиготном состоянии. Эффективность иммуносупрессивной терапии не различалась в зависимости от наличия полиморфных маркеров гена NPHS1. Частота сниженной СКФ <60 мл/мин/1,73 м2, темпы изменений СКФ в год и кумулятивная почечная выживаемость статистически значимо не различались среди пациентов со СРНС с наличием и отсутствием установленных маркеров гена NPHS1. Таким образом, не выявлено ассоциаций полиморфных маркеров гена NPHS1 с прогрессированием спорадического СРНС у детей.

The results of a cohort study of potential association with single nucleotide polymorphisms (SNP) in the NPHS1 gene that encodes nephrin, with the efficacy of immunosuppressive treatment and progression of sporadic SRNS in children are presented. Fifty-three children with primary non-familial SRNS aged 16,0 (12,0; 17,0) years were studied. Renal biopsy showed FSGS in 49,1%, mesangial proliferative GN in 22,6%, MPGN in 15,1%, membranous nephropathy in 7,5% and MCD in 5,7% of patients. Low frequency of heterozygous mutations in the NPHS1 gene (1,9%) in children with sporadic SRNS was found. Four types of SNP in the NPHS1 gene were identified in 58,5% children, majority of the SNP were heterozygous. Efficacy of immunosuppressive treatment was not different significantly in patients with SNP in comparison those without them. There was no significant differences in the frequency of GFR <60 mL/min/1,73 m2, the rate of eGFR declined per year and cumulative renal survival in patients with SNP in the NPHS1 gene. An association of the SNP in NPHS1 gene and progression of sporadic SRNS in children was not found.

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