Related Experiment Videos
Atypical Fabry's disease. An oligosymptomatic variant
1Department of Pathology, Hanyang University, College of Medicine, Seoul, Korea.
Archives of Pathology & Laboratory Medicine
|January 1, 1996
Summary
Atypical Fabry's disease, a rare inherited disorder, can present with mild proteinuria and be incidentally discovered via kidney biopsy. This case highlights the importance of considering Fabry's disease in unexplained renal findings.
Area of Science:
- Genetics and rare diseases
- Nephrology
- Metabolic disorders
Background:
- Fabry disease is an X-linked inherited metabolic disorder caused by alpha-galactosidase A deficiency.
- Typical Fabry disease presents with multi-systemic symptoms, including corneal dystrophy, neurological issues, cardiovascular disease, and angiokeratoma.
- Atypical forms may exhibit limited symptoms, primarily affecting the kidneys or heart, potentially leading to incidental diagnosis.
Observation:
- A 34-year-old man presented with only intermittent trace or 1(+) proteinuria.
- No family history of renal disease was reported.
- Renal biopsy was performed to investigate the proteinuria.
Findings:
- Renal biopsy revealed histological and ultrastructural findings consistent with Fabry disease.
- Skin biopsy of scrotal papules confirmed the presence of angiokeratoma.
- Biochemical assays showed significantly reduced alpha-galactosidase activity in urine and plasma.
Implications:
- This case underscores that Fabry disease can present with oligosymptomatic phenotypes, particularly isolated proteinuria.
- Incidental diagnosis through renal biopsy is possible in atypical presentations.
- Highlights the need for a high index of suspicion for Fabry disease in patients with unexplained renal abnormalities.