Burning Feet, Dilated Heart and Failed Kidneys.

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.