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”10.21508/1027-4065-2020-65-6-76-83perinatology-1294Research ArticleКЛИНИЧЕСКИЕ СЛУЧАИCLINICAL CASESСиндром Барде–БидляBardet–Biedl SyndromeПотроховаЕ. А.PotrokhovaE. A.

Потрохова Елена Александровна – д.м.н., проф., зав. педиатрическим отделением 

125412 Москва, Талдомская ул., д. 2 

Moscow

potrokhova@pedklin.ruБабаянМ. Л.BabayanM. L.

Бабаян Маргарита Левоновна – к.м.н., врач-гастроэнтеролог педиатрического отделения 

125412 Москва, Талдомская ул., д. 2 

Moscow

БалеваЛ. С.BalevaL. S.

Балева Лариса Степановна – д.м.н., проф., рук. отдела радиационной экопатологии детского возраста

125412 Москва, Талдомская ул., д. 2 

Moscow

СафоноваМ. П.SafonovaM. P.

Сафонова Манушак Петросовна – к.м.н., врач-педиатр педиатрического отделения

125412 Москва, Талдомская ул., д. 2 

Moscow

СипягинаА. Е.SipyaginaA. E.

Сипягина Алла Евгеньевна – д.м.н., гл. науч. сотр. отдела радиационной экопатологии детского возраста

125412 Москва, Талдомская ул., д. 2

Moscow

ОСП «Научно-исследовательский клинический 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 Federation2020200120216567683Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20212021Ltd. “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/1294

Синдром Барде–Бидля – редкое аутосомно-рецессивное заболевание из группы цилиопатий, имеющее полиморфные клинические симптомы, включая дистрофию сетчатки, ожирение, полидактилию, задержку психического развития, гипогонадизм, дисфункцию почек. Плейотропные эффекты вызваны дефектами генов, кодирующих белки, ответственные за функционирование ресничек. В статье затрагиваются вопросы клинических особенностей, диагностики, дифференциальной диагностики и лечения данного заболевания. Клинический случай демонстрирует пациента с синдромом Барде–Бидля, проявляющимся дистрофией сетчатки, ожирением, брахи-, син- и клинодактилией, гипогенитализмом, задержкой психического развития и сопутствующим гипотиреозом. По результатам молекулярно-генетического исследования у ребенка выявлены мутации в экзоне 2 гена BBS10 с.271dupT и с.583G>A (p.G180E) в компаунд-гетерозиготном состоянии, унаследованные соответственно от отца и матери – здоровых носителей.

The Bardet–Biedl syndrome is a rare autosomal recessive disease of the group of ciliopathies with polymorphic clinical symptoms including the retinal degeneration, obesity, polydactyly, mental retardation, hypogonadism, and renal dysfunction. The Pleiotropic effects are caused by the defects in genes encoding the proteins responsible for the functioning of cilia. The Article addresses the issues of the clinical features, diagnosis, differential diagnosis and treatment of this disease. The clinical case demonstrates the patient with Bardet–Biedl syndrome, manifested by the retinal degeneration, obesity, brachydactylia, syndactyly and clinodactyly, hypogenitalism, mental retardation and concomitant hypothyroidism. As per results of the molecular genetic testing, the child was found having the mutations in exon 2 of BBS10 gene c.271dupT and c.583G> A (p.G180E) in the compound heterozygous condition, inherited from the father and mother, respectively, that are the healthy carriers.

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