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Hypoxanthine guanine phosphoribosyl transferase deficiency presenting with gout and renal failure in infancy
Archives of Disease in Childhood
|October 1, 1983
Insights
A month-old infant experienced gout and kidney failure due to hypoxanthine guanine phosphoribosyl transferase (HGPRTase) deficiency. Low HGPRTase levels in blood and skin cells confirmed this rare genetic disorder.
Area of Science:
- Biochemistry
- Pediatric Nephrology
- Medical Genetics
Background:
- Gout and renal failure are severe conditions that can affect infants.
- Hypoxanthine guanine phosphoribosyl transferase (HGPRTase) deficiency is a rare genetic disorder affecting purine metabolism.
Observation:
- A one-month-old infant presented with symptoms of gout and acute renal failure.
- Diagnostic imaging revealed crystal nephropathy via ultrasound.
- Renal biopsy confirmed uric acid deposition in the kidneys.
Findings:
- The infant exhibited significantly elevated uric acid levels.
- Enzyme assays demonstrated deficient HGPRTase activity in both red blood cells and fibroblasts.
- This confirmed a diagnosis of Lesch-Nyhan syndrome or a related HGPRTase deficiency.
Implications:
- Early diagnosis of HGPRTase deficiency is crucial for managing associated renal complications.
- Understanding purine metabolism defects is key to developing targeted therapies.
- This case highlights the importance of investigating metabolic disorders in infantile kidney failure.
Abstract:
A month old infant had gout and renal failure caused by hypoxanthine guanine phosphoribosyl transferase (HGPRTase) deficiency. Investigations showed a high uric acid value, crystal nephropathy on ultrasound, and uric acid deposition on renal biopsy. The HGPRTase value was low in red cells and fibroblasts.