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”10.21508/1027-4065-2020-65-3-32-38perinatology-1147Research ArticleОБЗОРЫ ЛИТЕРАТУРЫLITERATURE REVIEWSГенетические факторы наследственных фенотипов пузырно-мочеточникового рефлюкса и рефлюкс-нефропатииGenetic factors of hereditary phenotypes of vesicoureteral reflux and reflux nephropathyЮрьеваЭ. А.YuryevaE. A.

Юрьева Элеонора Александровна – д.м.н., проф., гл. науч. сотр. лаборатории клинической геномики и биоинформатики

125412 Москва, ул. Талдомская, д. 2

ДлинВ. В.DlinV. V.

Длин Владимир Викторович – д.м.н., проф., и.о. директора, рук. отдела наследственных и приобретенных болезней почек

125412 Москва, ул. Талдомская, д. 2

ВоздвиженскаяЕ. С.VozdvizhenskayaE. S.

Воздвиженская Екатерина Сергеевна – к.б.н., биолог лаборатории патоморфологии и иммунологии

125412 Москва, ул. Талдомская, д. 2

ОСП «Научно-исследовательский институт педиатрии им. академика Ю.Е. Вельтищева» ФГАОУ ВО РНИМУ им. Н.И. Пирогова Минздрава РоссииРоссияVeltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical UniversityRussian Federation2020070720206533238Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20202020Ltd. “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/1147

Представлен обзор литературы, посвященный генетически обусловленным пузырно-мочеточниковому рефлюксу и рефлюкс-нефропатии, которые сопровождают определенные фенотипы системных или локальных форм наследственной дисплазии соединительной ткани (синдромы Элерса–Данло, Марфана, Вильямса, вялой кожи). Определена роль мутации генов фибриллярных коллагенов, эластина, трансформирующего фактора роста β1, тенасцина, лизилпероксидазы, металлопротеиназ и других компонентов соединительной ткани, а также их возможного сочетания в развитии патологии. Авторы призывают специалистов продолжать исследования генетических мутаций при пузырно-мочеточниковом рефлюксе и рефлюкс-нефропатии.

The article reviews publications on genetically determined vesicoureteral reflux and reflux nephropathy, accompanying certain phenotypes of systemic or local forms of hereditary connective tissue dysplasia (Ehlers–Danlo, Marfan, Williams syndromes, sluggish skin). The authors determined the role of mutations of the genes of fibrillar collagen, elastin, transforming growth factor β1, tenascin, lysyl peroxidase, metalloproteinases and other components of connective tissue, as well as their possible combination in the development of pathology. The authors call the specialists to continue research on genetic mutations in vesicoureteral reflux and reflux nephropathy.

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