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Hypertension in a child with type IA glycogen storage disease
A J Jonas1, R R Verani, R R Howell
1Department of Pediatrics, University of Texas Medical School, Houston 77030.
Insights
Early kidney problems like hypertension and proteinuria can occur in children with type IA glycogen storage disease (GSD). This case highlights potential early renal manifestations in this rare metabolic disorder.
Area of Science:
- Pediatric Nephrology
- Metabolic Disorders
- Renal Pathology
Background:
- Glycogen storage disease type IA (von Gierke's disease) is a rare inherited metabolic disorder.
- Renal involvement in GSD type IA is not well-characterized, particularly in early stages.
Observation:
- A 2-year-old child with GSD type IA presented with hypertension and proteinuria.
- The patient exhibited signs of hyperfiltration and elevated selective renal vein renins.
- Renal biopsy revealed increased mesangial matrix and cellularity, with irregular basement membrane thickening.
Findings:
- The observed renal abnormalities suggest potential early nephropathy in GSD type IA.
- Hyperfiltration and renin abnormalities may indicate early functional renal changes.
- Histopathological findings point to structural alterations in the glomeruli.
Implications:
- This case may represent early renal manifestations of type IA GSD.
- Understanding these early findings is crucial for timely diagnosis and management.
- Further research is needed to elucidate the spectrum of renal disease in GSD type IA.
Abstract:
Hypertension and proteinuria were observed in a 2-year-old child with type IA (von Gierke's) glycogen storage disease (GSD). She had evidence of hyperfiltration and had elevated selective renal vein renins. On renal biopsy, increased mesangial cell matrix and cellularity were observed with focal thickening and irregularity of the basement membrane. This case may be representative of the early renal findings in type IA GSD.