medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2025.11.96-97medgen-3312Research ArticleКРАТКОЕ СООБЩЕНИЕBRIEF REPORTГенетические нарушения в этиологии CAKUT. Мультицентровое исследование (Москва–Минск)Genetic disorders in the etiology of CAKUT. Multicenter study (Moscow-Minsk)МорозовС. Л.MorozovS. L.

125412, Москва, ул. Талдомская, д. 2

2, Taldomskaya st., Moscow, 125412

mser@list.ruБайкоС. В.BaykoS. V.

220083, Минск, пр. Дзержинского, д. 83

83, Dzerzhinski Ave., Minsk, 220083

ПахомоваВ. П.PakhomovaV. P.

125412, Москва, ул. Талдомская, д. 2

2, Taldomskaya st., Moscow, 125412

Научно-исследовательский клинический институт педиатрии и детской хирургии имени академика Ю.Е. Вельтищева Российского национального исследовательского медицинского университета имени Н.И. ПироговаРоссияYu.E. Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the N.I. Pirogov Russian National Research Medical UniversityRussian FederationБелорусский государственный медицинский университетРоссияBelarusian State Medical UniversityRussian Federation20252412202524119697Copyright © Морозов С.Л., Байко С.В., Пахомова В.П., 20252025Морозов С.Л., Байко С.В., Пахомова В.П.Morozov S.L., Bayko S.V., Pakhomova V.P.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/3312

Врожденные аномалии развития почек и мочевых путей – congenital anomalies of the kidney and urinary tract (CAKUT) составляют в среднем 25% от общего числа всех генетических пороков, диагностируемых внутриутробно. Частота развития CAKUT составляет 2–6 случаев на 1000 новорожденных. Для формирования прогноза заболевания и определения тактики ведения пациентов в клиническое практике, а также медико-генетического консультирования необходимо проводить диагностику моногенных форм патологии посредством высокопроизводительного секвенирования следующего поколения, что продемонстрировало высокую эффективности выявления патогенных мутаций, ассоциированных с CAKUT.

Congenital anomalies of the kidney and urinary tract (CAKUT) account for an average of 25% of all genetic defects diagnosed in utero. The incidence of CAKUT is 2–6 cases per 1000 newborns. To form a prognosis for the disease and determine the tactics of introducing patients into clinical practice, as well as medical and genetic counseling, it is necessary to diagnose monogenic forms of pathology using medical exemptions of high-throughput next-generation sequencing, which has demonstrated high efficiency in identifying pathogenic mutations associated with CAKUT.

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