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Area of Science:

  • Genetics
  • Nephrology
  • Biochemistry

Background:

  • Fabry disease is an X-linked lysosomal storage disorder caused by alpha-galactosidase A (α-GalA) deficiency.
  • Renal involvement typically manifests in the third decade of life.

Observation:

  • A 16-year-old male presented with end-stage renal disease (ESRD).
  • Kidney biopsy revealed characteristic myeloid bodies on electron microscopy.

Findings:

  • Diagnosis of Fabry disease was confirmed by low serum α-GalA levels.
  • The patient exhibited an unusually early onset of renal disease.

Implications:

  • This case underscores the importance of considering Fabry disease in young patients with unexplained ESRD.
  • Early diagnosis and management are crucial for mitigating severe complications of Fabry disease.