Renal complications of Anderson-Fabry disease

Anderson-Fabry disease is a rare X-linked lysosomal storage disease caused by deficiency of the enzyme _-galactosidase A. The deficiency of _-galactosidase activity leads to progressive, abnormal accumulation of neutral glycosphingolipids in the lysosome. Globotriaosylceramide progressively accumulates in different cells, tissues and organs throughout the body. The overall prevalence of Anderson-Fabry disease is 1:117 000, with prevalence in the male population of 1:40 000. The «classic» form of Anderson- Fabry disease becomes manifest during childhood or adolescence, with early symptoms of neuropathic pain, angiokeratomas, oedematous upper eyelids, peripheral vasospasm and opthalmological abnormalities. The disease progresses through adulthood and by the age of 30-40 years several major organ systems may be affected, cardiac disease, renal insufficiency, cerebrovascular attacks and neurological findings are common. The «renal» and «cardiac» form of the disease become manifest in adults, with variable expressions of «classical» symptoms. Death usually occurs secondary to renal, cardiac or cerebrovascular complications during the fourth or fifth decade of life. Enzyme replacement therapy is a major advance in the treatment of rare diseases. Two formulations have been approved for the treatment of Anderson-Fabry's disease: agalsidase alpha and agalsidase beta.
Agalsidase alpha is produced on the human fibroblast cell line, and Agalsidase beta is derived from the Chinese Hamster Ovary
Category: Review
Volume: Vol. 49, No 3, july - september 2005
Authors: P. Kes, N. Bašić-Jukić, B. Brunetta, I. Jurić, I. Blajić, N. Dumančić, M. Blažev
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