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Renal disease in Fabry patients
Author(s) -
Grünfeld J.P.,
Lidove O.,
Joly D.,
Barbey F.
Publication year - 2001
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1012475908718
Subject(s) - fabry disease , medicine , disease , dialysis , transplantation , complication , kidney transplantation , end stage renal disease , fabry's disease , urology , endocrinology
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 α‐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.