nefrНефрологияNephrology (Saint-Petersburg)1561-62742541-9439Pavlov First Saint-Petersburg State Medical University10.36485/1561-6274-2024-28-3-19-31QPGEQVnefr-2331Research ArticleОБЗОРЫ И ЛЕКЦИИREVIEWS AND LECTURESКлиническая значимость молекулярно-генетического тестирования у детей и подростков с болезнями почек и мочевыводящих путейClinical significance of molecular genetic testing in children and adolescents with kidney and urinary tract diseaseshttps://orcid.org/0000-0002-9844-4536ЯнусГ. А.YanusG. A.

Янус Григорий Аркадьевич, канд. мед. наук, научный сотрудник лаборатории молекулярной диагностики с расширенной группой по экогенетике; научный сотрудник лаборатории молекулярной онкологии

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

197785, Санкт-Петербург, пос. Песочный, ул. Ленинградская, д. 68

Тел.: (812)416-52-66, (812) 439-95-55

Grigoriy A. Yanus, MD, PhD, Researcher at the Laboratory of molecular diagnostic with an extended ecogenetic group; Researcher at the Laboratory of molecular oncology

194100, St-Petersburg, Litovskaya str. 2

197785, St-Petersburg, Pesochny, Leningradskaya str. 68

Phone: (812)416-52-66, (812) 439-95-55

octavedoctor@yandex.ruhttps://orcid.org/0000-0001-9764-2090СуспицынЕ. Н.SuspitsinE. N.

Доц. Суспицын Евгений Николаевич, д-р мед. наук, кафедра общей и молекулярной медицинской генетики; старший научный сотрудник лаборатории молекулярной онкологии

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

197785, Санкт-Петербург, пос. Песочный, ул. Ленинградская, д. 68

Тел.: (812)416-52-66, (812)439-95-55

Аssociate professor Evgeny N. Suspitsin, MD, PhD, Dr Med Sci, Department of general and molocular medical genetic; senior researcher at the Laboratory of molecular oncology

194100, St-Petersburg, Litovskaya str. 2

197785, St-Petersburg, Pesochny, Leningradskaya str. 68

Phone: (812)416-52-66, (812)439-95-55

evgeny.suspitsin@gmail.comhttps://orcid.org/0009-0004-0163-0271ЛаптиевС. А.LaptievS. A.

Лаптиев Сергей Александрович, канд. биол. наук, врач-генетик

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

Тел.: (812)416-52-66

Sergei A. Laptiev, MD, PhD, Biol., MD, genetist

194100, St-Petersburg, Litovskaya str. 2

Phone: (812)416-52-66

s.laptiev@icloud.comhttps://orcid.org/0000-0002-1465-3286СтрекаловД. Л.StrekalovD. L.

Доц. Стрекалов Денис Львович, канд. мед. наук, кафедра общей и молекулярной медицинской генетики

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

Тел.: (812)416-52-66

Аssociate professor Denis L. Strekalov, MD, PhD, head assistant, Department of general and molecular medical genetics

194100, St-Petersburg, Litovskaya str. 2

Phone: (812)416-52-66

denis_jesuu@mail.ruhttps://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.: (812)416-52-66

Prof. Nadezhda D. Savenkova, MD, PhD, DrMedSci, Head of the Department of faculty pediatrics

194100, St-Petersburg, Litovskaya str. 2

Phone: (812)416-52-66

savenkova.n.spb@mail.ruhttps://orcid.org/0000-0003-4529-7891ИмянитовЕ. Н.ImyanitovE. N.

Проф. Имянитов Евгений Наумович, д-р мед. наук, чл.-кор. РАН, заведующий кафедрой общей и молекулярной медицинской генетики; заведующий научным отделом биологии опухолевого роста

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

197785, Санкт-Петербург, пос. Песочный, ул. Ленинградская, д. 68

Тел.: (812)416-52-66

Prof. Evgeny N. Imyanitov, MD, PhD, DrMedSci, member-corr. RAS, Head of the Department of general and molecular medical genetics; Head of the Scientifi c department of tumor growth biology

194100, St-Petersburg, Litovskaya str. 2

197785, St-Petersburg, Pesochny, Leningradskaya str. 68

Phone: (812)416-52-66

evgeny@imyanitov.spb.ruСанкт-Петербургский государственный педиатрический медицинский университет; Национальный медицинский исследовательский центр онкологии им. Н.Н. ПетроваРоссияSt. Petersburg State Pediatric Medical University; N.N. Petrov National Medicine Research Center of OncologyRussian FederationСанкт-Петербургский государственный педиатрический медицинский университетРоссияSt. Petersburg State Pediatric Medical UniversityRussian Federation2024180920242831931Copyright © Янус Г.А., Суспицын Е.Н., Лаптиев С.А., Стрекалов Д.Л., Савенкова Н.Д., Имянитов Е.Н., 20242024Янус Г.А., Суспицын Е.Н., Лаптиев С.А., Стрекалов Д.Л., Савенкова Н.Д., Имянитов Е.Н.Yanus G.A., Suspitsin E.N., Laptiev S.A., Strekalov D.L., Savenkova N.D., Imyanitov E.N.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/2331

Наследственные болезни почек и мочевыводящих путей являются частой причиной развития хронической болезни почек (ХБП) у детей. Прогресс технологий ДНК-анализа привел к значительному повышению эффективности молекулярно-генетических исследований в педиатрической нефрологии. Применение ДНК-диагностики позволяет установить клинико-генетический диагноз заболевания, уточнить патогенез наблюдаемого патологического состояния, определить стратегию персонализированного лечения и наблюдения за пациентом, прогнозировать состояние здоровья ребёнка в будущем, проводить медико-генетическое консультирование родственников больного и т.д. Выявление молекулярных дефектов, лежащих в основе развития наследственных заболеваний почек, открывает пути к разработке новых таргетных препаратов, позволяющих осуществлять коррекцию нефрологических нарушений. Целью обзора является обобщение имеющихся сведений об основных направлениях практического использования ДНК-диагностики в педиатрической нефрологии.

Hereditary diseases of the kidneys and urinary tract are a common cause of chronic kidney disease in children. The progress of DNA analysis technologies has led to a significant increase in the efficiency of molecular genetic research in nephrology. The use of DNA diagnostics in pediatric nephrology makes it possible to establish a clinical and genetic diagnosis, the pathogenesis of hereditary kidney disease, determine a strategy for personalized treatment and management, and predict the patient’s health status in the future. Identification of the molecular defect underlying the development of the disease opens the way to the development of new targeted drugs and medical genetic counseling of families. The purpose of the review is to summarize the available information about the main areas of practical use of DNA diagnostics in pediatric nephrology.

наследственные болезни почек и мочевыводящих путейДНК-диагностикагеныпедиатрическая нефрологияhereditary diseases of the kidneys and urinary tractDNA diagnosticsgenespediatric nephrologyРабота поддержана грантом РНФ 22-45-08004.ReferencesConnaughton DM, Hildebrandt F. Personalized medicine in chronic kidney disease by detection of monogenic mutations. Nephrol Dial Transplant 2020;35(3):390–397. doi: 10.1093/ndt/gfz028.Connaughton DM, Hildebrandt F. Personalized medicine in chronic kidney disease by detection of monogenic mutations. Nephrol Dial Transplant 2020;35(3):390–397. doi: 10.1093/ndt/gfz028.Klämbt V, Buerger F, Wang C et al. Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs. J Am Soc Nephrol 2023;34(2):273–290. doi: 10.1681/ASN.2022010050Klämbt V, Buerger F, Wang C et al. Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs. 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The authors declare that there are no conflicts of interest present.