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Early liver transplantation for primary hyperoxaluria type 1 in an infant with chronic renal failure
G Schürmann1, K Schärer, A M Wingen
1Department of Surgery, University of Heidelberg, West Germany.
Insights
Infantile oxalosis, a severe metabolic disorder, can be treated with liver transplantation to address alanine: glyoxylate aminotransferase deficiency. This procedure offers a potential cure for the fatal disease, though its impact on advanced kidney damage requires further study.
Area of Science:
- Biochemistry
- Genetics
- Pediatric Medicine
Background:
- Primary hyperoxaluria type 1 is a severe inherited metabolic disorder.
- It results from a deficiency in the hepatic enzyme alanine: glyoxylate aminotransferase (AGT).
- This deficiency leads to excessive oxalate production and deposition, causing renal insufficiency.
Observation:
- A 22-month-old girl presented with severe type 1 primary hyperoxaluria and chronic renal failure.
- She underwent a successful liver transplantation to correct the AGT deficiency.
Findings:
- Endogenous creatinine clearance remained stable at approximately 10 ml/min per 1.73 m2, 23 months post-transplantation.
- The liver transplant effectively addressed the underlying metabolic defect.
Implications:
- Liver transplantation presents a potential cure for the otherwise fatal infantile oxalosis.
- The long-term effect of liver transplantation on kidney function in patients with advanced renal disease remains to be determined.
Abstract:
Infantile oxalosis is the most severe form of primary hyperoxaluria type 1, an inborn metabolic disorder caused by a deficiency of the hepatic enzyme alanine: glyoxylate aminotransferase (AGT). Renal insufficiency occurs due to excessive production and renal deposits of oxalate. This report concerns a 22-month-old girl with severe type 1 primary hyperoxaluria and chronic renal failure. Liver transplantation was performed successfully as treatment of AGT deficiency. Endogenous creatinine clearance remained stable at about 10 ml/min per 1.73 m2 at 23 months after transplantation. It is suggested that liver transplantation offers potential cure of an otherwise fatal disease. However, it remains questionable if the procedure influences kidney function in the presence of advanced renal disease.