perinatologyРоссийский вестник перинатологии и педиатрииRossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)1027-40652500-2228Ltd. “The National Academy of Pediatric Science and Innovation”10.21508/1027-4065-2023-68-2-13-21perinatology-1796Research ArticleОБЗОРЫ ЛИТЕРАТУРЫLITERATURE REVIEWSНаследственный нефротический синдром у детей: особенности клинического фенотипа и генотипа, патогенеза, почечного прогноза изолированных и синдромальных формThe hereditary nephrotic syndrome in children: features of clinical phenotype and genotype, pathogenesis, renal prognosis of isolated and syndromic formshttps://orcid.org/0000-0002-9415-4785СавенковаН. Д.SavenkovaN. D.

Савенкова Надежда Дмитриевна — доктор медицинских наук, профессор, заведующая кафедрой факультетской педиатрии

194100 Санкт-Петербург, ул. Литовская, д. 2

Saint Petersburg

Savenkova.n.spb@mail.ruБатраковД. Д.BatrakovD. D.

Батраков Денис Дмитриевич — студент VI курса

194100 Санкт-Петербург, ул. Литовская, д. 2

Saint Petersburg

ФГБОУ ВО «Санкт-Петербургский государственный педиатрический медицинский университет» Минздрава РоссиРоссияSaint Petersburg State Pediatric Medical UniversityRussian Federation2023260420236821321Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20232023Ltd. “The National Academy of Pediatric Science and Innovation”Ltd. “The National Academy of Pediatric Science and Innovation”https://www.ped-perinatology.ru/jour/about/submissions#copyrightNoticehttps://www.ped-perinatology.ru/jour/article/view/1796

В обзоре литературы представлены клинический фенотип и генотип, патогенез, почечный прогноз наследственного нефротического синдрома изолированной и синдромальной с экстраренальной манифестацией форм у детей. Освещены клинико-генетические особенности наследственного стероидчувствительного и стероидрезистентного нефротического синдрома у детей, обусловленного мутациями генов, кодирующих основные компоненты щелевой диафрагмы, гломерулярной базальной мембраны, структурные и функциональные белки подоцита. Данные литературы демонстрируют неблагоприятный почечный прогноз у детей с наследственным стероидрезистентным нефротическим синдромом с фокально-сегментарным гломерулосклерозом и диффузным мезангиальным склерозом, с клинической манифестацией в возрасте 0–17 лет, прогрессированием в терминальную стадию почечной недостаточности в возрасте 0,4–18 лет. Замещающая функцию почек терапия с применением диализа и трансплантации почки повышает выживаемость и качество жизни детей с наследственным нефротическим синдромом.

The review of the literature presents the clinical phenotype and genotype pathogenesis, renal prognosis of isolated and extra-renal manifestation form of hereditary nephrotic syndrome in children. The clinical and genetic features of hereditary steroid-sensitive and steroid-resistant nephrotic syndrome in children caused by mutations of genes encoding the main components of the slit diaphragm, glomerular basement membrane, structural and functional proteins of the podocyte are highlighted. Literature data demonstrate an unfavorable renal prognosis in children with hereditary steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis and diffuse mesangial sclerosis with clinical manifestation at the age of 0–17 years with progression to terminal renal failure at the age of 0.4–18 years. Renal replacement therapy with dialysis and kidney transplantation improves the prognosis, survival, and quality of life of children with hereditary nephrotic syndrome.

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