nefrНефрологияNephrology (Saint-Petersburg)1561-62742541-9439Pavlov First Saint-Petersburg State Medical University10.36485/1561-6274-2020-24-3-15-27nefr-1824Research ArticleОБЗОРЫ И ЛЕКЦИИREVIEWS AND LECTURESНаследственный нефротический синдром у педиатрических и взрослых пациентовThe hereditary nephrotic syndrome in children and adultshttps://orcid.org/0000-0002-9415-4785СавенковаН. Д.SavenkovaN. D.

Проф. Савенкова Надежда Дмитриевна, д-р мед. наук, заведующая кафедрой факультетской педиатрии

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

Тел.: +7(812)416-52-86

Prof. Nadezhda D. Savenkova, MD, PhD, Dr Med Sci, Head of the Department of Faculty Pediatrics

194100, St. Petersburg, Litovskaya st. 2

Phone: +7(812)416-52-86

Savenkova.n.spb@mail.ruСанкт-Петербургский государственный педиатрический медицинский университетРоссияSaint-Petersburg State Pediatric Medical UniversityRussian Federation2020220420202431527Copyright © Савенкова Н.Д., 20202020Савенкова Н.Д.Savenkova N.D.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/1824

Данные литературы свидетельствуют: в результате достижений медицинской генетики установлен патогенез стероидорезистентного изолированного и синдромального нефротического синдрома у педиатрических и взрослых пациентов. Клинико-генетические особенности наследственного изолированного или синдромального нефротического синдрома у педиатрических и взрослых пациентов обусловлены мутациями генов, кодирующих основные компоненты гломерулярной базальной мембраны, щелевой диафрагмы, cтруктурные и функциональные белки подоцита. Устанавливают клинические проявления при наследственном нефротическом синдроме у педиатрических и взрослых пациентов в возрасте от 0 до 70 лет, прогрессирование в терминальную почечную недостаточность от 5 мес до 75–80 лет в зависимости от генетических и клинико-морфологических особенностей. Молекулярно-генетическое исследование при стероидорезистентном изолированном и синдромальном нефротическом синдроме, проведенное до начала цитостатической терапии и биопсии почки у педиатрических и взрослых пациентов, имеет важное клиническое значение для принятия решений о целесообразности биопсии почки и иммуносупрессивной терапии, оценки скорости прогрессирования в терминальную почечную недостаточность, выбора иммуносупрессивной терапии перед трансплантацией почки. Стоящая перед отечественной нефрологией проблема ранней диагностики наследственного изолированного и синдромального нефротического синдрома у педиатрических и взрослых пациентов должна быть решена путем внедрения в нефрологическую практику молекулярно-генетического тестирования.

Literature data indicate that as a result of achievements in medical genetics, the pathogenesis of the development of hormone-resistant isolated and syndromal nephrotic syndrome in pediatric and adult patients has been established. Clinical and genetic features of hereditary isolated or syndromal nephrotic syndrome in pediatric and adult patients are caused by mutations of genes encoding the main components of the glomerular basal membrane, slit diaphragm, structural and functional proteins of the podocyte. Clinical manifestations of hereditary nephrotic syndrome in pediatric and adult patients aged 0 to 70 years, progression to terminal renal failure from 5 months to 75–80 years, depending on genetic and clinical and morphological features, are established. Molecular Genetic testing in steroid-resistant isolated and syndromal nephrotic syndrome conducted before the start of cytostatic therapy and kidney biopsy in pediatric and adult patients is of important clinical significance for making decisions about the feasibility of kidney biopsy and immunosuppressive therapy evaluating the rate of progression to terminal renal failure, and choosing immunosuppressive therapy before kidney transplantation. The problem of early diagnosis of hereditary isolated and syndromal nephrotic syndrome in paediatric and adult patients facing domestic nephrology should be solved by the introduction of molecular genetic testing in nephrological practice.

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Effect of heterozygous pathogenic COL4A3 or COL4A4 variants on patients with X-linked Alport syndrome. Mol Genet Genomic Med 2019;7(5) 647. doi: 10.1002/mgg3.647Zhang Y, Ding J, Zhang H et al. Effect of heterozygous pathogenic COL4A3 or COL4A4 variants on patients with X-linked Alport syndrome. Mol Genet Genomic Med 2019;7(5) 647. doi: 10.1002/mgg3.647Постановление 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»Decree of the Government of the Russian Federation dated 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 2020 and 2021”

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