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”10.21508/1027-4065-2023-68-2-86-92perinatology-1806Research ArticleКЛИНИЧЕСКИЕ СЛУЧАИCLINICAL CASESСиндром Бараката: клинический полиморфизм заболеванияBarakat syndrome: clinical polymorphism of the diseasehttps://orcid.org/0000-0002-8166-2449ЗайковаН. М.ZaikovaN. M.

Зайкова Наталья Михайловна — доктор медицинских наук, врач отделения нефрологии, сотрудник отдела наследственных и приобретенных болезней почек им. М.С. Игнатовой

125412 Москва, ул. Талдомская, д. 2

Moscow

nataliazaikova@mail.ruhttps://orcid.org/0000-0002-0942-0103МорозовС. Л.MorozovS. L.

Морозов Сергей Леонидович — кандидат медицинских наук, ведущий научный сотрудник отдела наследственных и приобретенных болезней почек им. М.С. Игнатовой 

125412 Москва, ул. Талдомская, д. 2

Moscow

https://orcid.org/0000-0002-3646-7062РябоваС. Е.RyabovaS. E.

Рябова Светлана Евгеньевна — младший научный сотрудник 

125412 Москва, ул. Талдомская, д. 2

Moscow

https://orcid.org/0000-0002-3050-7748ДлинВ. В.DlinV. V.

Длин Владимир Викторович — доктор медицинских наук, руководитель отдела наследственных и приобретенных болезней почек им. профессора М.С. Игнатовой 

125412 Москва, ул. Талдомская, д. 2

Moscow

ОСП «Научно-исследовательский клинический институт педиатрии и детской хирургии им. академика Ю.Е. Вельтищева» ФГАОУ ВО РНИМУ им. Н.И. Пирогова Минздрава РоссииРоссияVeltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical UniversityRussian Federation2023270420236828692Copyright © 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/1806

Синдром Бараката (MIM#146255) — редкое аутосомно-доминантное заболевание, вызванное мутацией гена GATA3 и проявляющееся гипопаратиреозом (H), нейросенсорной глухотой (D) и почечной недостаточностью (R). HDR-синдром характеризуется высокой клинической вариабельностью. Точная распространенность этого заболевания неизвестна, в литературе описано 180 случаев. Представлены 2 клинических случая. У обоих пациентов выявлена гетерозиготная мутация de novo в гене GATA3. Наши наблюдения демонстрируют вариабельность клинических фенотипов и неблагоприятный прогноз заболевания у пациентов с синдромом Бараката. Синдром следует предполагать в случаях ранней выраженной глухоты и признаков заболевания почек для своевременной диагностики и назначения соответствующей терапии, включая профилактику прогрессирования хронической болезни почек.

Barakat Syndrome (MIM#146255) is a rare autosomal dominant disease caused by GATA3 gene mutation and manifested by hypoparathyroidism (H), sensorineural deafness (D), and renal disease (R). HDR syndrome characterized by high clinical variability and prognosis. The exact prevalence of this disease is unknown, 180 cases are reported in the literature. Two clinical cases are presented. De novo heterozygous mutation in the GATA3 gene was detected in both patients. Our observations demonstrate variability of clinical phenotypes and poor prognosis in patients with Barakat Syndrome. The syndrome should be suspected in cases of early high-grade deafness and kidney disease presentation for the purpose of early diagnosis and appropriate therapy including the prevention of CKD progression.

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