nefrНефрологияNephrology (Saint-Petersburg)1561-62742541-9439Pavlov First Saint-Petersburg State Medical University10.36485/1561-6274-2020-24-3-42-53nefr-1826Research ArticleОБЗОРЫ И ЛЕКЦИИREVIEWS AND LECTURESКлинико-генетические характеристики Bartter и Gitelman синдромов у детейClinico-genetic specifications of Bartter and Gitelman syndrome in childrenhttps://orcid.org/0000-0002-5881-0124ЛевиашвилиЖ. Г.LeviashviliJ. G.

Проф. Левиашвили Жанна Гавриловна, д-р мед. наук, кафедра факультетской педиатрии, профессор

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

Тел.: +7(812)416-52-66

Prof. Janna G. Leviashvili, MD, PhD, DMedSci, Department of Faculty Pediatrics, professor

194100, St. Petersburg, Litovskaya st. 2

Phone: +7(812)416-52-66

Jannalevi@gmail.comhttps://orcid.org/0000-0002-9415-4785СавенковаН. Д.SavenkovaN. D.

Проф. Савенкова Надежда Дмитриевна, д-р мед. наук, кафедра факультетской педиатрии, заведующая кафедрой

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

Тел.: +7(812)416-52-86

Prof. Nadezhda D. Savenkova, MD, PhD, DMedSci, Head of the Department of Faculty Pediatrics

194100, St. Petersburg, Litovskaya st. 2

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

Savenkova.n.spb@mail.ruСанкт-Петербурский государственный педиатрический медицинский универститетРоссияSaint-Petersburg State Pediatric Medical UniversityRussian Federation2020220420202434253Copyright © Левиашвили Ж.Г., Савенкова Н.Д., 20202020Левиашвили Ж.Г., Савенкова Н.Д.Leviashvili J.G., 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/1826

Молекулярно-генетическое исследование привело к открытию новых генов, кодирующих белки, – транспортеры, котранспортеры и обмениватели, участвующие в транспорте натрия, калия и хлора в толстой восходящей части петли Генле и дистальном извитом канальце. В статье представлены современные данные литературы о генетических типах тубулопатии с ведущим синдромом гипокалиемии и алкалоза – Bartter и Gitelman синдромов у детей. Описаны клинико-генетические особенности шести типов Bartter синдрома с аутосомно-рецессивным и Х-сцепленным типом наследования, подходы к классификации, диагностика и современные методы лечения. С момента первого описания Bartter синдрома известны 6 клинико-генетических вариантов, среди них антенатальные I, II, IVa, IVb, V типы, которые являются потенциально опасными для жизни заболеваниями. Bartter синдром III типа характеризуется манифестацией гипокалиемического алкалоза у детей в раннем и дошкольном возрасте. Лечение Bartter синдрома у детей включает коррекцию водно-электролитных нарушений, применение нестероидных противовоспалительных препаратов (НПВП) для ингибирования избыточного образования почечного простагландина PgЕ 2. Gitelman синдром с аутосомно-рецессивным типом наследования манифестирует у детей в школьном возрасте, в дальнейшем у подростков и взрослых наблюдается усиление клинических проявлений (с выраженными гипомагнемическими судорогами верхних и нижних конечностей, артериальной гипертензией), требующих коррекции. В обзоре представлены клинико-генетические особенности редкой, атипичной формы аутосомно-рецессивного Gitelman синдрома с манифестацией в школьном возрасте, которая характеризуется прогрессирующими двусторонними кальцификатами субкортикальных отделов больших полушарий головного мозга, кальцификатами в базальных ганглиях и субкортикальных отделах мозжечка. В отличие от Bartter синдрома, при котором более тяжелые клинические проявления у новорожденных, грудных и детей раннего возраста, Gitelman синдром имеет тенденцию к усилению клинических проявлений у подростков и взрослых. Лечение Gitelman синдрома у детей и подростков включает коррекцию водно-электролитных нарушений, применение препаратов магния и дотацию соли.

Molecular genetic research has led to the discovery of new genes encoding proteins – transporters, cotransporters and exchangers involved in the transport of sodium, potassium and chlorine in the thick ascending part of the Henle loop and in the distal convoluted tubule. The article presents modern literature data on the genetic types of tubulopathy with the leading syndrome of hypokalemia and alkalosis – Bartter and Gitelman syndromes in children. The clinical and genetic features of the six types of Bartter syndrome with autosomal recessive and X-linked inheritance, classification approaches, diagnosis, and modern treatment methods are described. Since the first description of Bartter syndrome, 6 clinical genetic options have been known, including antenatal I, II, IVa, IVb, V types, which are potentially life-threatening diseases. Bartter type III syndrome is characterized by the manifestation of hypokalemic alkalosis in children at an early and preschool age. Treatment of Bartter syndrome in children includes the correction of water – electrolyte disturbances, the use of non-steroidal anti-inflammatory drugs (NSAIDs) to inhibit the excessive formation of renal prostaglandin PgE 2. Gitelman syndrome with an autosomal recessive type of inheritance manifests itself in children at school age, later on in adolescents and adults there is an increase in clinical manifestations (with severe hypomagnesemic seizures of the upper and lower extremities, arterial hypertension) requiring correction. The review presents the clinical and genetic features of the rare, atypical form of the autosomal recessive Gitelman syndrome with a manifestation in school age, which is characterized by progressive bilateral calcifications of the subcortical parts of the cerebral hemispheres, calcifications in the basal ganglia and subcortical cerebellum. Unlike Bartter syndrome, with more severe clinical manifestations in newborns, infants and young children, Gitelman syndrome tends to increase clinical manifestations in adolescents and adults. Treatment of Gitelman syndrome in children and adolescents includes the correction of water – electrolyte disturbances, the use of magnesium preparations and salt subsidy.

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