Article: article from journal or magazin.
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Renal disease in Fabry patients.
Journal of Inherited Metabolic Disease
Publication types: Journal Article ; ReviewPublication Status: ppublish
Renal dysfunction is a major complication in hemizygous males with Fabry disease. This often results in end-stage renal failure (ESRF), requiring dialysis or transplantation, on average 10 years after the start of renal impairment. ESRF usually occurs between 40 and 50 years of age, but may occur much earlier. Although progression of renal disease can be rapid, it is variable and may depend on whether there is residual alpha-galactosidase enzyme activity and on environmental or genetic factors. Significant renal disease is much less common in women carriers of the disease. However, renal changes do occur, which may progress to ESRF as in male patients.
Fabry Disease/complications, Fabry Disease/genetics, Female, Heterozygote, Homozygote, Humans, Kidney Diseases/etiology, Kidney Diseases/genetics, Male
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