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Fabry disease
Clinical feature:
Definition: This X-linked disorder is a consequence of deficient activity of lysosomal alpha-glactosidase A, which results in accumulation of ceramide trihexoside in multiple tissues.
Pathogenesis: The accumulation of ceramide in different cells results in organ dysfuncion.Kidneys: Moderate proteinuria, renal insufficiency, dialysis.Heart: Cardiomegaly, coronary artery disease, conduction abnormalities.Nervous system: Acroparethesias, hypohidrosis, gastrointestinal problems.Vasculture: Angiokeratoma, stroke, vertigo, deafness.Eyes: Corneal opacity.
Epidemiology: The disease is panethnic, and estimates of incidence range from about 1 in 40,000 to 60,000 males.
Diagnostics:
Strategy: Along with a thorough investigationof all affected organs the determination of galactosidase A activity in plasma or leucocytes is in male patients significant for the diagnosis. To identify heterozygous female patients it is necessary to perform molecular investigation.
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