Fabry’s disease
Journal Title: Αρχεία Ελληνικής Ιατρικής - Year 2009, Vol 26, Issue 1
Abstract
Fabry’s disease (FD), an X-linked hereditary metabolic progressive disorder, is due to low or absent activity of the enzyme α-galactosidase A. Human α-galactosidase A is the lysosomal exoglycosidase responsible for the hydrolysis of terminal α-galactosyl moieties of various glycoconjugates. The major debilitating manifestations of Fabry’s disease result from the progressive accumulation of globotriaosylceramide in the vascular endothelium, leading to ischemia and infarction, especially in the kidney, heart, and brain. Although the disease presents in childhood and culminates in cardiac, cerebrovascular, and end-stage renal disease, diagnosis is often delayed or missed. With the availability of enzyme replacement therapy, prompt diagnosis and treatment of Fabry’s disease have assumed new importance. There is no comparable alternative to enzyme replacement therapy for this devastating, progressive disease. Future research should address the development of protocols for early diagnosis and optimal enzyme protocols for the reversal and maintenance of the underlying pathology of Fabry’s disease, especially for children and for patients with compromised renal function and those with cardiac disease.
Authors and Affiliations
A. ANDRIKOS
Εντερορραγία άγνωστης αιτιολογίας στην παιδική ηλικία.<br /> Λαπαροσκοπική διάγνωση και αντιμετώπιση<br />
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