Pompe disease

Abstract

. Pompe disease is a rare, progressive disease, the basis of which is the pathogenesis of excessive accumulation of glycogen by lysosomes due to mutation of the GAA gene and loss of activity of the enzyme acidic α-glucosidase. Preferred accumulation of glycogen is noted in cross-linked muscles, but can vary in degrees in other organs and tissues, including cardiac muscle, liver, nervous system. The type of inheritance is autosomal recessive. In clinical practice, the detection of characteristic symptoms allows you to timely suspect Pompe disease. Sufficient awareness and alertness of the doctor about Pompe's disease, with a combination of characteristic symptoms, facilitates diagnosis. RT in T1 mode makes it easy to assess muscle tropism and to identify specific areas of fibrous-fat degeneration, which is characteristic of muscular dystrophy. The study of muscular biopsy in Pompe disease reveals a vacuated myopathy of lysosomal nature in determining the activity of acid phosphatase, in a histo-enzymatic study, as well as glycogen accumulation. The basis of the biochemical diagnosis of Pompe disease is the study of the activity of the enzyme GAA with the help of natural or synthetic substrates in the acidic medium. Modern molecular biology techniques can predict the severity of the disease, which correlates with the residual activity of the enzyme. Life-long enzyme replacement therapy for recombinant human acid α-glucosidase in patients with a confirmed diagnosis of Pompe disease is recommended. Enzyme replacement therapy helps preserve life for patients with Pompe disease, improves its quality and slows the progression of the disease. The early start of therapy is very important, because it allows you to achieve the best clinical results. The use of enzyme replacement therapy in childhood disease has been shown to reduce the risk of death by 99%, and the risk of death or need for invasive ventilation is 92%. In the presence of a confirmed diagnosis of Pompe disease, regardless of the age of the patient, pathogenetic therapy with alglucosidase alfa should be initiated immediately.