Early renal failure in Fabry's disease

Area of Science:

• Nephrology
• Genetics
• Rare Diseases

Background:

• Fabry's disease is a rare X-linked genetic disorder.
• It results from a deficiency in the enzyme alpha-galactosidase A, leading to globotriaosylceramide accumulation.
• Renal impairment typically manifests later in life, usually in the fourth or fifth decade.

Observation:

• Two young males presented with end-stage renal failure attributed to Fabry's disease.
• One patient required hemodialysis at age 16, the other at age 24.
• Diagnostic confirmation involved low plasma galactosidase levels and characteristic findings on skin and kidney biopsies.

Findings:

• Both patients underwent successful kidney transplantation.
• The 16-year-old patient has maintained good graft function for five years post-transplant.
• The 24-year-old patient has maintained good graft function for two years post-transplant.

Implications:

• Fabry's disease should be considered in the differential diagnosis of renal failure in young males, even with atypical early presentation.
• Kidney transplantation can be a successful treatment option for end-stage renal disease caused by Fabry's disease.
• This case highlights the importance of early recognition and intervention for Fabry's disease to prevent severe complications.