verezdoВестник репродуктивного здоровьяBulletin of Reproductive Health2075-65692310-421XEndocrinology Research Centre (Moscow)10.14341/brh12769verezdo-12769Research ArticleКЛИНИЧЕСКИЕ СЛУЧАИCASE REPORTSСлучай поздней диагностики синдрома Барде-БидляA case of delayed diagnosis of Bardet-Biedl syndromehttps://orcid.org/0000-0002-8694-2474ГусейноваР. М.GuseinovaR. M.

Гусейнова Раисат Магомедкамиловна

117036, Москва, ул. Дм. Ульянова, д. 11

Raisat M. Guseinova, MD.

11 Dm. Ulyanova street, 117036 Moscow

rasgus-9@mail.ruhttps://orcid.org/0009-0002-1988-4590РафаелянМ. Г.RafaelyanM. G.

Рафаелян Манушак Гагиковна

Москва

Rafaelyan Manushak Gagikovna – MD.

Moscow

dr.rfln@bk.ruhttps://orcid.org/0000-0001-6294-7601АверкинаА. А.AverkinaA. A.

Аверкина Анастасия Алексеевна

Москва

Anastasia A. Averkina - MD.

Moscow

averkinaanastasia.a@gmail.comhttps://orcid.org/0009-0004-2732-3472ФлитманЕ. Д.FlitmanE. D.

Флитман Екатерина Дмитриевна

Москва

Ekaterina D. Flitman - clinical psychologist.

Moscow

Flitman.Ekaterina@endocrincentr.ruhttps://orcid.org/0009-0000-2932-0399КопытинаД. А.KopytinaD. A.

Копытина Дарья Александровна - Scopus Author ID: 58853779500

Москва

Daria A. Kopytina - MD; Scopus Author ID: 58853779500

Moscow

Kopytina.Daria@endocrincentr.ruhttps://orcid.org/0000-0002-9299-1053ВасюковаО. В.VasyukovaO. V.

Васюкова Ольга Владимировна - к.м.н.; Researcher ID: AAO-375 0-2020; Scopus Author ID: 57192194141

Москва

Olga V. Vasyukova - MD, PhD; Researcher ID: AAO-375 0-2020; Scopus Author ID: 57192194141

Moscow

Vasukova.Olga@endocrincentr.ruhttps://orcid.org/0000-0002-7045-8215МинниахметовИ. Р.MinniakhmetovI. R.

Минниахметов Илдар Рамилевич - к.б.н.

Москва

Ildar R. Minniakhmetov – PhD.

Moscow

minniakhmetov.ildar@endocrincentr.ruhttps://orcid.org/0000-0002-8643-850XХусаиноваР. И.KhusainovaR. I.

Хусаинова Рита Игоревна - д.б.н., проф.

Москва

Khusainova R. Igorevna - PhD, professor.

Moscow

ritakh@mail.ruГНЦ ФГБУ «Национальный медицинский исследовательский центр эндокринологии им. академика И.И. Дедова»РоссияEndocrinology Research CentreRussian Federation202505112025434046Copyright © Гусейнова Р.М., Рафаелян М.Г., Аверкина А.А., Флитман Е.Д., Копытина Д.А., Васюкова О.В., Минниахметов И.Р., Хусаинова Р.И., 20252025Гусейнова Р.М., Рафаелян М.Г., Аверкина А.А., Флитман Е.Д., Копытина Д.А., Васюкова О.В., Минниахметов И.Р., Хусаинова Р.И.Guseinova R.M., Rafaelyan M.G., Averkina A.A., Flitman E.D., Kopytina D.A., Vasyukova O.V., Minniakhmetov I.R., Khusainova R.I.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.vrz-endojournals.ru/jour/article/view/12769

Синдром Барде-Бидля — редкое мультисистемное аутосомно-рецессивное заболевание, относящееся к спектру цилиопатий. Характерными признаками являются центральное ожирение и гипогонадизм, пигментный ретинит, дисфункция и аномалии развития мочевыводящих путей, полидактилия, задержка психического развития и трудности в обучении. Синдром диагностируется на основании клинических проявлений и симптомов, которые могут быть подтверждены молекулярно-генетическим тестированием.

В статье обсуждаются вопросы клинических особенностей, диагностики, дифференциальной диагностики, трудности и возможности лечения пациента с прогрессирующим ожирением и ассоциированных с ним расстройств. Синдром Барде-Бидля верифицирован в возрасте 23 лет при генетическом анализе: в гене BBS1 (NM 024649.5) в 12 экзоне обнаружен патогенный вариант (HG38, chr11:66526181T>G, c.1169T>G) в гомозиготном состоянии.

Bardet-Biedl syndrome is a rare multisystem autosomal recessive disorder that belongs to the spectrum of ciliopathies. Typical features include central obesity and hypogonadism, retinitis pigmentosa, renal dysfunction, polydactyly, mental retardation and learning difficulties. The syndrome diagnostics is based on clinical manifestations and symptoms, and it can be confirmed by molecular genetic testing. The article discusses the clinical features, diagnostics, differential diagnostics, difficulties and possibilities of treatment of a patient with progressive obesity and associated disorders. Bardet-Biedl syndrome was verified at the age of 23 by genetic analysis: homozygous mutation in the BBS1 gene was detected.

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