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”perinatology-138Research ArticleНАСЛЕДСТВЕННЫЕ БОЛЕЗНИHEREDITARY DISEASESКонечностно-поясная прогрессирующая мышечная дистрофия типа 2А (кальпаинопатия)Limb-girdle muscular dystrophy type 2A (calpainopathy)БараничТ. И.BaranichT. I.

асп. каф. гистологии, эмбриологии и цитологии РНИМУ им. Н.И. Пирогова

АртемьеваС. Б.ArtemyevaS. B.

к.м.н., зав. психоневрологическим отделением №2 того же учреждения

КлейменоваН. В.KleimenovaN. V.

к.м.н., в.н.с. той же лаборатории

ХавхунЛ. А.KhavkhunL. A.

к.м.н., врач высшей категории, врач психоневрологического отделения № 1 того же учреждения

ВлодавецД. В.VIodavetsD. V.

к.м.н., стн.с. отдела психоневрологии и эпилептологии того же учреждения

КазаковД. О.KazakovD. O.

сотрудник того же отдела 125412 Москва, ул. Талдомская, д. 2

ШаталовП. А.ShatalovP. A.

к.б.н., н.с. той же лаборатории

ЛитвиноваЕ. Б.LitvinovaE. B.

к.м.н., врач того же отделения

ШуляковаИ. В.ShulyakovaI. V.

к.м.н., врач того же отделения

БрыдунА. В.BrydunA. V.

к.м.н., ст.н.с. той же лаборатории

ГлинкинаВ. В.GlinkinaV. V.

д.м.н., проф., зав.  каф. гистологии, эмбриологии и цитологии РНИМУ им. Н.И. Пирогова 117997 Москва, ул. Островитянова, д. 1

СухоруковВ. С.SukhorukovV. S.

д.м.н., проф., зав. научно-исследовательской лабораторией общей патологии Научно-исследовательского клинического института педиатрии

ОСП «Научно-исследовательский клинический институт педиатрии» ГБОУ ВПО «РНИМУ им. Н.И. Пирогова», Москва; Российский национальный исследовательский медицинский университет им. Н.И. Пирогова, МоскваРоссияResearch Clinical Institute of Pediatrics, N.I. Pirogov Russian National Research Medical University, Moscow; N.I. Pirogov Russian National Research Medical University, MoscowRussian Federation2015130320166046974Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20162016Ltd. “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/138

Клиническая картина конечностно-поясной прогрессирующей мышечной дистрофии типа 2А (LGMD2A) обусловлена потерей функционально активного кальпаина-3 - специфической для скелетной мышечной ткани изоформы одного из белков семейства кальпаинов, вовлеченного в регуляцию различных тканевых процессов. Функция кальпаина-3 и патофизиологический механизм развития LGMD2A до конца не понятны. Рассматриваются особенности патогенеза, клинической картины и диагностики кальпаинопатии, а также обсуждается возможное применение трансгенов кальпаина-3 как специфической терапии данного заболевания. Представлены два клинических наблюдения.

The clinical presentation of progressive limb-girdle muscular dystrophy type 2A (LGMD2A) is due to loss of functionally active cal-pain-3, a skeletal muscle specific isoform of one of the calpain family proteins involved in the regulation of different tissue processes. The function of calpain-3 and the pathophysiological mechanism of LGMD2A are still not fully understood. The article discusses the features of the pathogenesis, clinical presentation, and diagnosis of LGMD2A and the possible administration of calpain-3 trans-genes as a specific therapy for this disease. Two clinical cases of patients with this condition are given.

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