Neuromuscular DiseasesNeuromuscular DiseasesНервно-мышечные болезни2222-87212413-0443Publishing House ABV Press1310.17650/2222-8721-2014-0-1-62-68CLINICAL CASEКЛИНИЧЕСКИЙ РАЗБОРLate-onset Pompe disease: first clinical description in RussiaБолезнь Помпе с поздним началом: первое клиническое описание в РоссииNikitinS. S.НикитинС. С.
Russian Federation
KovalchukM. O.КовальчукМ. О.
Russian Federation
maria.oleg.kov@gmail.comZaharovaE. U.ЗахароваЕ. Ю.
Russian Federation
TsivilevaV. V.ЦивилеваВ. В.
Russian Federation
Scientific Research Institute of Pathology and Pathophysiology, Russian Academy of Medical SciencesНИИ общей патологии и патофизиологии РАМНFederal Research Clinical Center of Federal Medico-Biological CenterФГБУ «Федеральный научно-клинический центр специализированных видов медицинской помощи» ФМБА РоссииLabarotary of Inherited Metabolic Diseases of Medical Genetic Scientific Center, Russian Academy of Medical Sciences, MoscowЛаборатория наследственных болезней обмена веществ Медико-генетического научного центра РАМН, Москва190420144162681902201519022015Copyright ©; 2014, Nikitin S.S., Kovalchuk M.O., Zaharova E.U., Tsivileva V.V.Copyright ©; 2014, Никитин С.С., Ковальчук М.О., Захарова Е.Ю., Цивилева В.В.2014Nikitin S.S., Kovalchuk M.O., Zaharova E.U., Tsivileva V.V.Никитин С.С., Ковальчук М.О., Захарова Е.Ю., Цивилева В.В.https://creativecommons.org/licenses/by/4.0https://nmb.abvpress.ru/jour/article/view/13

Late-onset Pompe-disease (LOPD) is an adult form of the glycogenosis type II. The age of onset ranges from 1 till 75 y.o. and older. The diagnosis of LOPD is based on the presence of trunk and limb-girdle muscle weakness with hyperlordosis, respiratory failure, ocasionally accompanied by cardiomyopathy, persistent mild elevation of creatine kinase, dry blood spot test of the enzyme activity and DNA-analysis of GAA-gene. Early recognition of the LOPD and beginning of the enzyme replacement therapy is important in preventing severe motor and respiratory deficit, the patient disability and in increasing the survival in those patients.

Болезнь Помпе с поздним началом (БППН) – взрослая форма гликогеноза 2-го типа, которая встречается в возрасте от 1 года до 75 лет и старше. Диагностика БППН основывается на выявлении поясно-конечностной и туловищной слабости с формированием гиперлордоза, слабости дыхательной мускулатуры, в редких случаях сочетающихся с кардиомиопатией, персистирующего умеренного повышения креатинфосфокиназы, определении ферментативной активности кислой α-глюкозидазы по сухому пятну крови и ДНК-анализе гена GAA. Своевременная постановка диагноза и начало заместительной энзимотерапии позволяют предотвратить развитие грубого двигательного и дыхательного дефицита, являющегося основной причиной инвалидизации, и отсрочить летальный исход при данном заболевании.

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