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”10.21508/1027-4065-2020-65-6-12-21perinatology-1285Research ArticleОБЗОРЫ ЛИТЕРАТУРЫLITERATURE REVIEWSНаследственный врожденный и инфантильный нефротический синдром у детей: стратегия ведения с новыми возможностями генетической диагностики и терапииHereditary Congenital and Infantile Nephrotic Syndrome in Children: Strategy of Management with New Possibilities for Genetic Diagnosis and Therapyhttps://orcid.org/0000-0002-9415-4785СавенковаН. Д.SavenkovaN. D.

Савенкова Надежда Дмитриевна – д.м.н., проф., зав. кафедрой факультетской педиатрии

194100 Санкт-Петербург, ул. Литовская д. 2

St. Petersburg

Savenkova.n.spb@mail.ruСанкт-Петербургский государственный педиатрический медицинский университетРоссияSt. Petersburg State Pediatric Medical UniversityRussian Federation2020190120216561221Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20212021Ltd. “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/1285

В результате всемирных генетических исследований получена фундаментальная информация о патогенезе гормонорезистентного врожденного и инфантильного нефротического синдрома у детей. Мутации генов, кодирующих основные компоненты базальной мембраны клубочков почки, структурные и функциональные белки подоцита, ответственны за развитие врожденного и инфантильного нефротического синдрома с типичной гистологической картиной диффузного мезангиального склероза или фокальносегментарного гломерулосклероза. В соответствии с научно обоснованной международной стратегией клиническое фенотипирование в сочетании с целевым генетическим анализом являются стандартом диагностики наследственного нефротического синдрома у детей, которым рекомендуют выполнение генетического тестирования до начала терапии стероидами и до биопсии почки. Ранний генетический диагноз обеспечивает персонализированный подход к выбору лечебных воздействий с учетом особенностей генотипа и фенотипа врожденного или инфантильного нефротического синдрома у конкретного ребенка. Современная стратегия ведения таких детей предусматривает осуществление консервативной терапии и ранней трансплантации родственной почки при достижении массы тела 10–15 кг (в этом случае почки удаляют и трансплантируют при одной и той же операции) либо двусторонней нефрэктомии одновременно или поэтапно одной, затем второй почки и перитонеального диализа, затем трансплантации почки детям при достижении массы тела 10–15 кг. По данным регистра ESPN/ ERA-EDTA (2016), 5-летняя выживаемость детей с врожденным нефротическим синдромом, обусловленным мутацией гена NPHS1, после трансплантации почки составляет 91%, аллографта – 89%. Пути решения актуальной проблемы отечественной педиатрии: внедрение в практику международной стратегии ведения детей с врожденным и инфантильным нефротическим синдромом с новыми возможностями генетической диагностики и терапии, замещающей функцию почек, интенсификация трансплантации почки и ее доступности, проведение эпидемиологических исследований наследственного нефротического синдрома.

Due to the worldwide genetic research, the fundamental information was obtained regarding the pathogenesis of the hormone-resistant congenital and infantile nephrotic syndrome in children. The mutations in the genes encoding the main components of the basement membrane of the kidney glomeruli, structural and functional podocyte proteins are responsible for the development of the congenital and infantile nephrotic syndrome with the typical histologic pattern of the diffuse mesangial sclerosis or focal segmental glomerulosclerosis. In accordance with the evidence-based international strategy, the clinical phenotyping combined with the targeted genetic analysis is the diagnosis standard for the hereditary nephrotic syndrome in children that are recommended to perform the genetic analysis prior to start of the steroid therapy and prior to the kidney biopsy. The early genetic diagnosis assures the personalized approach to the choice of the therapies considering the genotype and phenotype specifics of the congenital or infantile nephrotic syndrome in the particular child. The up-to-date strategy for the management of such children provides the carrying out of the conservative therapy and early transplantation of the related kidney when reaching 10-15 kg body weight (in this case, the kidneys are removed and transplanted during the same surgery), or the bilateral nephrectomy simultaneously or one stepped, then the second kidney and peritoneal dialysis, then kidney transplantation for the children reached 10-15 kg body weight. According to ESPN / ERA-EDTA register (2016), the 5-year survival rate of the children with the congenital nephrotic syndrome caused by NPHS1 gene mutation is 91% after kidney transplantation, 89% after allograft. The solutions for the pressing challenge of the domestic pediatrics are as the following: introduce the international strategy into the practice of the children management with the congenital and infantile nephrotic syndrome with the new possibilities of the genetic diagnosis and therapy replacing the kidney function; enhance the kidney transplantation and its availability; carry out the epidemiological studies of the hereditary nephrotic syndrome.

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Non-Immunologic allograft loss in pediatric kidney transplant recipients. Pediatr Nephrol 2019; 34: 211–222. DOI: 10.1007/s00467-018-3908-4Ashoor I.F., Dharnidharka V.R. Non-Immunologic allograft loss in pediatric kidney transplant recipients. Pediatr Nephrol 2019; 34: 211–222. DOI: 10.1007/s00467-018-3908-4Постановление правительства Российской Федерации от 10 декабря 2018 года №1506 «О Программе государственных гарантий бесплатного оказания гражданам медицинской помощи на 2019 год и на плановый период 2020 и 2021 годов». https://www.garant.ru/products/ipo/prime/doc/72023058/. [Decree of the Government of the Russian Federation of December 10, 2018 No. 1506 «On the Program of State Guarantees of Free Provision of Medical Care to Citizens for 2019 and for the Planning Period of 2020 and 2021» https://www.garant.ru/products/ipo/prime/doc/72023058. (in Russ.)]Постановление правительства Российской Федерации от 10 декабря 2018 года №1506 «О Программе государственных гарантий бесплатного оказания гражданам медицинской помощи на 2019 год и на плановый период 2020 и 2021 годов». https://www.garant.ru/products/ipo/prime/doc/72023058/. [Decree of the Government of the Russian Federation of December 10, 2018 No. 1506 «On the Program of State Guarantees of Free Provision of Medical Care to Citizens for 2019 and for the Planning Period of 2020 and 2021» https://www.garant.ru/products/ipo/prime/doc/72023058. (in Russ.)]

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