nefrНефрологияNephrology (Saint-Petersburg)1561-62742541-9439Pavlov First Saint-Petersburg State Medical University10.24884/1561-6274-2019-23-5-17-28nefr-1739Research ArticleОБЗОРЫ И ЛЕКЦИИREVIEWS AND LECTURESКлинико-генетическиe особенности и стратегия терапии наследственного врожденного и инфантильного нефротического синдрома у детей (обзор литературы)Clinical-genetic features and therapy strategy of hereditary congenital and infantile nephrotic syndrome in children (literature review)https://orcid.org/0000-0002-9415-4785СавенковаН. Д.SavenkovaN. D.

Савенкова Надежда Дмитриевна – профессор, доктор мед. наук, заведующая кафедрой факультетской педиатрии

194100, Санкт-Петербург, Литовская, д. 2. Тел.: (812)4165286

Nadezhda D. Savenkova - MD, PhD, Dr Med Sci, Head of the Department of faculty pediatrics

194100, St-Petersburg, Litovskaya st., 2. Phone: (812)4165286

Savenkova.n.spb@mail.ruЧахалянМ. И.ChakhalianM. I.

Чахалян Марта Игоревна - ординатор 1-го года, кафедра факультетской педиатрии

194100, Санкт-Петербург, ул. Литовская, д. 2. Тел.: (812)4165286

Marta I. Chakhalian - resident of department of faculty pediatrics

194100, St-Petersburg, Litovskaya st., 2. Phone: (812)4165286

chakhalian93@mail.ruСанкт-Петербургский государственный педиатрический медицинский университетРоссияSaint-Petersburg State Pediatric Medical UniversityRussian Federation2019060820192351728Copyright © Савенкова Н.Д., Чахалян М.И., 20192019Савенкова Н.Д., Чахалян М.И.Savenkova N.D., Chakhalian M.I.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/1739

В обзоре литературы представлены этиология, клинико-генетические особенности врожденного и инфантильного нефротического синдрома (НС) у детей, как изолированного, так и c экстраренальной манифестацией. Врожденный НС (ВНС) диагностируют у детей с момента рождения до 3 мес, инфантильный (младенческий) – с 4 до 12 мес. Описаны клинико-генетические особенности наследственных вариантов врожденного и инфантильного НС у детей, обусловленных мутациями генов, кодирующих основные компоненты щелевой диафрагмы, гломерулярной базальной мембраны, цитоскелета ножек подоцитов. R. Preston et al. (2019) считают, что клиническое фенотипирование в сочетании с целевым генетическим анализом эффективно в диагностике стероид-резистентного врожденного и инфантильного НС у детей. В настоящее время рекомендуют выполнение генетического тестирования до начала иммуносупрессивной терапии и до проведения биопсии почки. Мутационный скрининг генов показан при наследственных вариантах врожденного (NPHS1, NPHS2, WT1, LAMB2, PLCE1, LMX1B) и инфантильного (NPHS2, NPHS1, WT1, PLCE1, TRPC6, ACTN4, ADCK4, COQ2, COQ6) НС у детей. Частота обнаружения мутации NPHS1 остается высокой среди нефинских случаев врожденного НС. В международной практике с целью ранней диагностики и определения терапии гормонорезистентного врожденного и инфантильного НС у детей используют современные методы мутационного скрининга. Биопсия почки отходит на второй план. Приведена современная стратегия медикаментозной и ранней заместительной почечной терапии. Ведение детей с ВНС финского типа предусматривает ежедневные внутривенные инфузии альбумина, ранние двустороннюю нефрэктомию, диализ и трансплантацию почки. 5-летняя выживаемость пациентов с врожденным и инфантильным НС после трансплантации почек составляет более 90 %, выживаемость почечного аллографта – более 80 %.

In the literature review are presented the etiology, clinical and genetic features of congenital and infantile nephrotic syndrome (NS) in children, as of isolated and with extra-renal manifestations. Congenital NS is diagnosed in children from birth to 3 months, infantile NS – from 4 to 12 months. Clinical and genetic features of hereditary variants of congenital and infantile NS in children caused by mutations of genes encoding the main components of slit diaphragm, glomerular basement membrane and the cytoskeleton of the podocyte feet are described. R. Preston et al (2019) believe that clinical phenotyping combined with targeted genetic analysis is effective in diagnosing steroid-resistant congenital and infantile NS in children. Currently, genetic testing is recommended before initiating immunosuppressive therapy and performing a biopsy of the kidney. Mutational screening of genes is shown in hereditary variants of congenital (NPHS1, NPHS2, WT1, LAMB2, PLCE1, LMX1B) and infantile (NPHS2, NPHS1, WT1, PLCE1, TRPC6, ACTN4, ADCK4, COQ2, COQ6) NS in children. The NPHS1 mutation detection rate remains high amongst non–Finnis cases of congenital NS. In international practice, with the aim of early diagnosis and treatment of steroid-resistant congenital and infantile NS in children, modern methods of mutational screening are used. Renal biopsy fades into the background. The literature review presents a modern strategy of drug and early renal replacement therapy. Recommendations for the management of Finnish-type congenital NS in children followed by many teams include daily albumin infusions, early bilateral nephrectomy, dialysis, and transplantation. The 5-years survival of patients with congenital and infantile nephrotic syndrome after kidney transplantation is more than 90 %, the survival rate of the renal allograft is more than 80 %.

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