nefrНефрологияNephrology (Saint-Petersburg)1561-62742541-9439Pavlov First Saint-Petersburg State Medical University10.36485/1561-6274-2020-24-3-54-63nefr-1827Research ArticleОБЗОРЫ И ЛЕКЦИИREVIEWS AND LECTURESКлинико-генетические особенности гломерулокистоза почек в детском возрастеClinical and genetic features of glomerulocystic kidney in childhoodhttps://orcid.org/0000-0002-8753-1415АндрееваЭ. Ф.AndreevaE. F.

Андреева Эльвира Фаатовна, канд. мед. наук, кафедра факультетской педиатрии, ассистент

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

Тел.: +7(812)416-52-86

Elvira F. Andreeva, MD, PhD, Department of Faculty Pediatrics, assistant professor

194100, St-Petersburg, Litovskaya st., 2

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

A-Elvira@yandex.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.: +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 Federation2020220420202435463Copyright © Андреева Э.Ф., Савенкова Н.Д., 20202020Андреева Э.Ф., Савенкова Н.Д.Andreeva E.F., 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/1827

В обзоре приведены исторические сведения изучения кистоза почек, протекающего с гломерулярными кистами, обсуждены вопросы терминологии, представлена классификация заболеваний, протекающих с гломерулокистозом почек. Описаны особенности течения, методы диагностики, лечения и прогноз гломерулокистоза почек в детском возрасте, ренальные и экстраренальные проявления двух подтипов наследственной гломерулокистозной болезни почек: аутосомно-доминантной гломерулокистозной болезни почек, ассоциированной с мутациями уромодулина (OMIM 609886), и семейной гипопластической гломерулокистозной болезни почек, ассоциированной с мутациями HNF-1β (TCF2) гена (OMIM 137920). Выделены диагностическая тетрада семейной гипопластической гломерулокистозной болезни почек, особенности течения и прогноз HNF-1β-ассоциированного заболевания почек с очень ранним выявлением (VEO-very early onset), MODY5 диабета, вызванного мутацией HNF-1β и синдрома 17q12 микроделеции в детском возрасте. По результатам ультразвукового исследования (УЗИ), у плода и новорожденного выявляют гиперэхогенность паренхимы почек, объем которых увеличен или соответствует нормальным значениям. Почечные кисты при гломерулокистозе почек мелкие, расположены в корковом слое или субкапсулярно, единичные или множественные, редко диагностируемые в неонатальном периоде. У детей раннего возраста при УЗИ картина нарастающей гиперэхогенности паренхимы с визуализацией почечных кист в корковом слое или субкапсулярно, уменьшение объема или асимметрия размеров почек. Мочевой синдром при гломерулокистозе почек в детском возрасте характеризуется гематурией, микропротеинурией, магниурией и уратурией в сочетании с гипостенурией и полиурией. Молекулярно-генетическое исследование выявляет мутацию генов, ответственных за развитие наследственных заболеваний, которые протекают с гломерулокистозом почек, и во многом определяет прогноз и тактику ведения пациента. Необходимы системный подход в диагностике и лечении гломерулокистоза почек у детей с целью замедления прогрессирования хронической болезни почек и внепочечных проявлений, сохранение преемственности наблюдения пациентов в педиатрической и взрослой нефрологической структурах.

The review provides historical information on the study of renal cystosis that occurs with glomerular cysts, discusses terminology issues and classification of diseases that occur with glomerulocystic kidney. The course features, diagnostic methods, treatment, and prognosis of renal glomerulocystosis in children, renal and extrarenal manifestations of two subtypes of hereditary glomerulocystic kidney disease: autosomal dominant glomerulocystic kidney disease associated with mutations of uromodulin (OMIM 609886) and familial hypoplastic glomerulocystic kidney disease associated with mutations of the HNF-1β (TCF2) gene (OMIM 137920). Diagnostic tetrad of familial hypoplastic glomerulocystic kidney disease, features of course and prognosis of HNF-1β-associated kidney disease with very early onset (VEO), MODY5 diabetes caused by HNF-1β mutation and 17q12 microdeletion syndrome in children were detected. According to the results of ultrasound examination (US), the fetus and newborn reveal hyperechogenicity of the kidney parenchyma, the volume of which is increased or corresponds to normal values. Renal cysts in glomerulocystic kidney are small, located in the cortical layer or subcapsularly, single or multiple, rarely diagnosed in the neonatal period. In young children, US shows a picture of increasing hyperechogenicity of the parenchyma with visualization of renal cysts in the cortical layer or subcapsularly, a decrease in the volume or asymmetry in the size of the kidneys. Urinary syndrome in glomerulocystic kidney in childhood is characterized by hematuria, microproteinuria, magniuria and uraturia in combination with hypostenuria and polyuria. Molecular genetic research reveals the mutation of genes responsible for the development of inherited diseases that occur with glomerulocystic kidney, and largely determines the prognosis and management tactics of the patient. A systematic approach is needed in the diagnosis and treatment of glomerulocystic kidney in children in order to slow the progression of chronic kidney disease and extrarenal manifestations, and to maintain continuity of observation of patients in pediatric and adult nephrological structures.

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