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”10.21508/1027-4065-2024-69-2-19-25perinatology-1966Research ArticleОБЗОРЫ ЛИТЕРАТУРЫLITERATURE REVIEWSКлинико-морфологический фенотип и генотип мультикистозной дисплазии почки у детейClinico-morphological phenotype and genotype of multicystic kidney dysplasia in childrenhttps://orcid.org/0000-0002-8753-1415АндрееваЭ. Ф.AndreevaE. F.

Андреева Эльвира Фаатовна - к.м.н., доц. кафедры факультетской педиатрии

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

Saint Petersburg

A-Elvira@yandex.ruСавенковаН. Д.SavenkovaN. D.

Савенкова Надежда Дмитриевна - д.м.н., проф., зав. кафедрой факультетской педиатрии, заслуженный врач Российской Федерации

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

Saint Petersburg

ФГБОУ ВО «Санкт-Петербургский государственный педиатрический медицинский университет» Минздрава РоссииРоссияSaint Petersburg State Pediatric Medical UniversityRussian Federation2024080520246921925Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20242024Ltd. “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/1966

обзоре литературы представлены данные о клинико-морфологическом фенотипе и генотипе мультикистозной дисплазии почки: односторонней (ORPHA:97363) и двусторонней (ORPHA:97364). Обсуждены результаты молекулярно-генетических исследований, в которых идентифицированы мутации генов PAX2, HNF1b, LHX1, CDC5L, USF2, UPK3A, NPHP3, TP63, SALL1, SOX9, CHD7, TFAP2A, ответственных за развитие нефункционирующей одно- или двусторонней, изолированной или синдромальной мультикистозной дисплазии почки. По данным литературы приведены особенности эволюции мультикистозной почки, компенсаторной гипертрофии и функции контралатеральной почки.

At this review of literature presents data on the clinico-morphological phenotype and genotype of multicystic kidney dysplasia: unilateral (ORPHA:97363) and bilateral (ORPHA:97364). The published results of molecular genetic studies, which identified mutations of the genes PAX2, HNF1b, LHX1, CDC5L, USF2, UPK3A, NPHP3, TP63, SALL1, SOX9, CHD7, TFAP2A, responsible for the development of non-functioning unilateral or bilateral, isolate or syndromal multicystic kidney dysplasia, have been discussed. According to the literature, the features of the evolution of multicystic kidney, compensatory hypertrophy and the function of the contralateral kidney are presented.

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