nidНефрология и диализNephrology and Dialysis1680-44222618-9801Российское диализное общество10.28996/2618-9801-2019-2-234-242nid-267Research ArticleОРИГИНАЛЬНЫЕ СТАТЬИORIGINAL ARTICLESИнфантильный нефротический синдром: клинико-морфологическая характеристика, генетическая гетерогенность, исходы. Опыт одного центраInfantile nephrotic syndrome: clinical and pathology features, genetic heterogeneity and outcome. A single-center studyПриходинаЛ. С.PrikhodinaL. S.prikhodina@rambler.ruПапижС. В.PapizhS. V.noemail@neicon.ruСтоляревичЕ. С.StolyarevichE. S.noemail@neicon.ruПовилайтитеП. Е.PovilaititeP. E.noemail@neicon.ruШаталовП. А.ShatalovP. A.noemail@neicon.ruОтдел наследственных и приобретенных болезней почек, "Научно-исследовательский клинический институт педиатрии им. академика Ю.Е. Вельтищева", ГБОУ ВО "Российский Национальный Исследовательский Медицинский Университет им. Н.И. Пирогова" Министерства Здравоохранения Российской Федерации; Кафедра педиатрии с курсом поликлинической педиатрии им. Г.Н. Сперанского, ФГБОУ ДПО РМАНПО Министерства Здравоохранения Российской ФедерацииРоссияDivision of Inherited and Acquired Kidney Diseases, Y.E. Veltishev Research Clinical Institute for Pediatrics, Pirogov Russian National Research Medical University; G.N. Speransky Department of Pediatrics with polyclinic pediatrics course, Russian Academy of Medical Continuous Postgraduate EducationRussian FederationОтдел наследственных и приобретенных болезней почек, "Научно-исследовательский клинический институт педиатрии им. академика Ю.Е. Вельтищева", ГБОУ ВО "Российский Национальный Исследовательский Медицинский Университет им. Н.И. Пирогова" Министерства Здравоохранения Российской ФедерацииРоссияDivision of Inherited and Acquired Kidney Diseases, Y.E. Veltishev Research Clinical Institute for Pediatrics, Pirogov Russian National Research Medical UniversityRussian FederationКафедра нефрологии факультета постдипломного образования, ФГБОУ ВО "Московский Государственный Медико-Стоматологический Университет им. А.И. Евдокимова" Министерства Здравоохранения Российской Федерации; Отделение нефрологических проблем трансплантации почки, ФГБУ "Научный Медицинский Центр трансплантологии и искусственных органов им. академика В.И. Шумакова" МЗ РФРоссияDepartment of Nephrology, Faculty of Postgraduate Education, Moscow State Medical and Dental University; Department of Nephrological Problems of Kidney Transplantation, V.I. Shumakov Federal Research Center of Transplantation and Artificial OrgansRussian FederationГосударственное бюджетное учреждение Ростовской области "Патологоанатомическое бюро"РоссияRostov Region Pathology BureauRussian FederationЛаборатория патоморфологии и иммунологии, "Научно-исследовательский клинический институт педиатрии им. академика Ю.Е. Вельтищева", ГБОУ ВО "Российский Национальный Исследовательский Медицинский Университет им. Н.И. Пирогова" Министерства Здравоохранения Российской ФедерацииРоссияLaboratory of Pathomorphology and Immunology, Y.E. Veltishev Research Clinical Institute for Pediatrics, Pirogov Russian National Research Medical UniversityRussian Federation201905082024212234242Copyright © Приходина Л.С., Папиж С.В., Столяревич Е.С., Повилайтите П.Е., Шаталов П.А., 20242024Приходина Л.С., Папиж С.В., Столяревич Е.С., Повилайтите П.Е., Шаталов П.А.Prikhodina L.S., Papizh S.V., Stolyarevich E.S., Povilaitite P.E., Shatalov P.A.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/267

Инфантильный нефротический синдром (НС) - редкая генетически гетерогенная группа гломерулопатий с манифестацией заболеваний в возрасте 4-12 месяцев. Цель: изучить клинико-морфологические характеристики, генетический профиль и почечный исходы у детей с инфантильным НС. Mатериалы и методы: проведен ретроспективный анализ историй болезни 8 детей (4 девочек и 4 мальчиков) в возрасте 3,2 (3,0; 6,1) лет с инфантильным НС. Всем пациентам проведен молекулярно-генетический анализ методом секвенирования следующего поколения - клиническое секвенирование экзома с исследованием мутаций в 68 генах, ассоциированных со стероид-резистентным НС с последующей валидацией выявленных мутаций прямым секвенированием по Сэнгеру. Результаты: фокально-сегментарный гломерулосклероз выявлен у 7/7 (100%) детей с инфантильным НС. Экстраренальные проявления отмечены у 3/8 (37,5%) пациентов. Моногенные причины инфантильного НС идентифицированы у 4/8 (50%) детей. Мутации были выявлены в 4/68 (5,9%) генах, включая гены NPHS2, NPHS1, WT1 и ITGB4. Сохранные функции почек на момент последнего наблюдения имели только 2/8 (25%) детей с инфантильным НС. Заключение: применение молекулярно-генетического исследования методами секвенирования следующего поколения у детей с инфантильным НС расширяет диагностические возможности с последующей персонализаций терапевтических подходов.

Infantile nephrotic syndrome (NS) is a rare, genetically heterogeneous group of glomerulopathies with the onset of the disease at the age of 4-12 months. Aim: to study of clinical and pathological characteristics, genetic features and outcome in children with infantile NS. Materials and methods: we conducted a retrospective one-center follow up study of 8 children (4M/4F) aged 3.2 (IQR: 3.0; 6.1) years with infantile NS. Targeted next-generation sequencing covering 68 genes associated with steroid-resistant NS with confirmation by direct Sanger sequencing were applied. Results: renal biopsy revealed focal-segmental glomerulosclerosis (FSGS) in 7/7 (100%) of the affected children. Monogenic causes of infantile NS were identified in 4/8 (50%) of children. Mutations were found in 4/68 (5.9%) genes, including NPHS2, NPHS1, WT1 and ITGB4. Normal renal functions on the last follow up had 2/8 (25%) children with infantile NS. Conclusion: genetic analyses of infantile NS with next-generation sequencing technique expands diagnostic possibilities with the subsequent personalization of therapeutic approaches.

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