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Renal disease in Fabry patients
J P Grünfeld1, O Lidove, D Joly
1Service de Néphrologie, Hôpital Necker, Paris, France. jean-pierre.grunfeld@nck.ap-hop-paris.fr
Journal of Inherited Metabolic Disease
|January 5, 2002
Summary
Fabry disease frequently causes kidney problems in males, leading to kidney failure. While less common in female carriers, they can also develop severe kidney issues.
Area of Science:
- Nephrology
- Genetics
- Metabolic Disorders
Background:
- Fabry disease is a rare genetic disorder affecting kidney function.
- Hemizygous males are particularly susceptible to renal complications.
- End-stage renal failure (ESRF) is a significant outcome in affected males.
Purpose of the Study:
- To summarize the impact of Fabry disease on renal function.
- To highlight the progression and variability of kidney disease in males and females.
Main Methods:
- Review of clinical data and literature on Fabry disease and renal outcomes.
- Analysis of factors influencing disease progression, including enzyme activity and genetics.
Main Results:
- Renal dysfunction is a primary complication in males with Fabry disease, often leading to ESRF.
- ESRF typically occurs between ages 40-50 but can be earlier; progression is variable.
- While less frequent, significant renal disease and ESRF can also occur in female carriers.
Conclusions:
- Fabry disease poses a substantial risk for renal failure in males.
- Female carriers are also at risk for renal complications, necessitating monitoring.
- Disease progression is influenced by residual enzyme activity and other factors.