Neuromuscular DiseasesNeuromuscular DiseasesНервно-мышечные болезни2222-87212413-0443Publishing House ABV Press13110.17650/2222-8721-2015-5-4-39-45CLINICAL CASEКЛИНИЧЕСКИЙ РАЗБОРClinical heterogeneity in Fabry diseaseКлиническая гетерогенность болезни ФабриSalogubG. N.СалогубГ. Н.
Russian Federation
salogub.galina@gmail.comHead of the department of the internal medicine, Federal State Budgetary Research Institution “V. A. Almazov North-western medical research center”ФГБУ «Северо-Западный федеральный медицинский исследовательский центр им. В. А. Алмазова» Минздрава России2 Akkuratova St., St. Petersburg, 197341, Russia197341, Санкт-Петербург, ул. Аккуратова, 2161220155439451612201516122015Copyright ©; 2015, Salogub G.N.Copyright ©; 2015, Салогуб Г.Н.2015Salogub G.N.Салогуб Г.Н.https://creativecommons.org/licenses/by/4.0https://nmb.abvpress.ru/jour/article/view/131

Fabry disease is an X-linked, lysosomal storage disease (OMIM: 301500), caused by α-galactosidase A deficiency, resulting in accumulation of its substrates, glycosphingolipids, primarily – globotriaosylceramide, in the lysosomes of multiple cell types with multi-system clinical manifestations, even within the same family, including abnormalities of the central and peripheral nervous system, kidneys, heart, gastrointestinal tract, lungs, organ of vision. Clinical heterogeneity is often the reason of the delayed diagnosis. Nowadays enzyme replacement therapy has proved its efficiency in the treatment of Fabry disease. Including Fabry disease in the differential diagnosis of a large range of disorders is important because of its wide clinical heterogeneity and the possibility of an earlier intervention with a beneficial treatment.

Болезнь Фабри (БФ) представляет собой Х-сцепленное заболевание (OMIM: 301500) из группы лизосомальных болезней накопления и обусловлена дефицитом фермента α-Галактозидазы А (αGAL A). Недостаточность αGAL A приводит к накоплению в лизосомах различных клеток нерасщепленного субстрата – гликосфинголипидов, в первую очередь глоботриаозилцерамида (GL-3), что объясняет широкий клинический полиморфизм, наблюдаемый даже среди членов одной семьи и включающий патологию центральной и периферической нервной системы, почек, сердечно-сосудистой и легочной систем, желудочно-кишечного тракта, органа зрения. Гетерогенность клинических проявлений болезни часто приводит к задержке постановки диагноза. На сегодняшний день для лечения БФ используют ферментозаместительную терапию (ФЗТ), доказавшую свою эффективность. Включение БФ в перечень дифференциального диагноза при ряде заболеваний диктуется ее выраженным клиническим полиморфизмом, возможностью сократить число недиагностированных случаев и своевременного начала эффективного лечения с помощью ФЗТ.

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