Publication details
Pompeho nemoc - patogeneze, klinický obraz, diagnostika, aktuální možnosti léčby
| Title in English | Pompe disease-pathogenesis, clinical presentation, diagnosis, current treatment options |
|---|---|
| Authors | |
| Year of publication | 2015 |
| Type | Article in Periodical |
| Magazine / Source | Remedia |
| MU Faculty or unit | |
| Citation | |
| Field | Neurology, neurosurgery, neurosciences |
| Keywords | Pompe disease; a-glucosidase deficiency; test of dried blood drops; recombinant a-glucosidase |
| Description | Pompe disease, or glycogen storage disease type II, is a rare autosomal recessive disorder caused by mutation in gene that encodes the enzyme acid a-glucosidase. Clinical manifestation can start in childhood as well as in adulthood. Severe muscle weakness, cardiomyopathy, and respiratory insufficiency or failure are typical in affected infants. In adulthood, the illness presents with progressive muscle weakness and respiratory insufficiency. First step in the diagnostic process consists of a screening using dried blood spot test. The diagnosis in being confirmed by measurement of a-glucosidase activity in leukocytes. DNA testing is important for correlation between the genotype and phenotype as well as for detection of carriers within the family. Treatment with recombinant a-g/ucosidase improves the clinical status of these patients and the quality of their lives. This review is focused on the pathogenesis, presentation, diagnostic process, and treatment options. |