Болезнь Помпе у взрослых: клинические проявления, диагноз и лечение

Abstract

Pompe disease is a rare inherited lisosomal storage disease characterized by accumulation of glycogen in muscular cells due to a deficient activity of acid a-glucosidase (GAA), an enzyme which degrades lysosomal glycogen. Late-onset Pompe disease can have onset at any age and sometimes mani fests in the elderly. It presents with a predominant proximal muscle weakness (limb girdle phenotype), moderately elevated serum creatine kinase and other muscle enzymes and respiratory dysfunction mainly due to a diaphragmatic weakness. Diagnosis requires low GAA activity in dried blood spots and genetic testing. The authors present the case of late-onset Pompe disease diagnosed in 45-year old male patient and discuss the efficacy of enzyme replacement therapy with recombinant GAA.