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”10.21508/1027-4065-2023-68-3-12-20perinatology-1820Research ArticleОБЗОРЫ ЛИТЕРАТУРЫLITERATURE REVIEWSТубулопатии с гипокалиемическим алкалозом: синдромы Барттера (Bartter) и HELIX у детейTubulopathies with hypokalemic alkalosis: Bartter and HELIX syndromes in childrenhttps://orcid.org/0000-0002-5881-0124ЛевиашвилиЖ. Г.LeviashviliJ. G.

Левиашвили Жанна Гавриловна - д.м.н., проф. кафедры факультетской педиатрии

194100 Санкт-Петербург, ул. Литовская д. 2

Saint Petersburg

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

Савенкова Надежда Дмитриевна - д.м.н., проф., зав. кафедрой факультетской педиатрии

194100 Санкт-Петербург, ул. Литовская д. 2

Saint Petersburg

https://orcid.org/0000-0002-7998-2849АмирянМ. А.AmiryanM. A.

Амирян Маргарита Оганесовна - асс. кафедры факультетской педиатрии

194100 Санкт-Петербург, ул. Литовская д. 2

Saint Petersburg

ФГБОУ ВО «Санкт-Петербургский государственный педиатрический медицинский университет» Минздрава РоссииРоссияSaint Petersburg State Pediatric Medical UniversityRussian Federation2023140720236831220Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20232023Ltd. “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/1820

В обзоре приведены данные литературы о тубулопатиях с гипокалиемическим алкалозом: синдромах Барттера (Bartter) и HELIX. Редкий синдром Барттера с аутосомно-рецессивным (I, II, III, IV и V типы) или Х-сцепленным рецессивным (V тип) типами наследования вследствие мутации генов SLC12A1, KCNJ1, CLCNKB, BSND, CLCNKA/CLCNKB, MAGED2, обусловливающих нарушение реабсорбции ионов К+, Na+, Cl–, Ca2+, Mg2+ в толстой восходящей части петли Генле и в дистальном извитом канальце. Характеризуется гипокалиемией, метаболическим алкалозом, гиперренинемией и вторичным гиперальдостеронизмом, высоким уровнем PgЕ2 при нормальном или низком артериальном давлении, гиперплазией юкстагломерулярного аппарата, нефрокальцинозом при I, II, V типах. Подробно описана новая тубулопатия HELIX-синдром, название которой образовано первыми буквами симптомов (Hypohidrosis, Electrolyte imbalance, Lacrimal gl and dysfunction, Ichthyosis, Xerostomia), обусловлена мутациями в гене CLDN10, кодирующими Claudin-10b, необходимый для парацелллюлярной реабсорбции Na+ в толстой восходящей части петли Генле и экзокринных железах. HELIX-синдром проявляется экстраренальными симптомами (дисфункции слюнных, потовых, слезных желез с нарушением выделения воды в слюну, пот — гипогидроз и слезы — алакрима) и ренальными (гипокалиемия, гипермагниемия, реже гиперкальциемия, метаболический алкалоз, гипокальциурия).

The review presents literature data on tubulopathies with hypokalemic alkalosis: Bartter and HELIX syndromes. Orphan Bartter syndrome with autosomal recessive (types I, II, III, IV, V) or X-linked recessive types of inheritance (type V) due to mutations in the SLC12A1, KCNJ1, CLCNKB, BSND, CLCNKA/CLCNKB, MAGED2 genes, causing impaired reabsorption ions K+, Na+, Cl-, Ca2+, Mg2+ in the thick ascending loop of Henle and in the distal convoluted tubule, characterized by hypokalemia, metabolic alkalosis, hyperreninemia and secondary hyperaldosteronism, high PgE2 levels against normal or low blood pressure, hyperplasia of the juxtaglomerular apparatus, nephrocalcinosis with I, II, V types. A new tubulopathy HELIX syndrome is described in detail, the name is formed by the first letters of symptoms (Hypohidrosis, Electrolyte imbalance, Lacrimal gl and dysfunction, Ichthyosis, Xerostomia), due to mutations in the CLDN10 gene encoding Claudin-10b necessary for paracellular reabsorption of Na+ in the thick ascending part of the loop of Henle and exocrine glands. HELIX syndrome is manifested by extrarenal symptoms (dysfunction of the salivary, sweat, lacrimal glands with impaired secretion of water into saliva, sweat — hypohidrosis and tears — alacrima) and renal (hypokalemia, hypermagnesemia, less often hypercalcemia, metabolic alkalosis, hypocalciuria).

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