Early liver transplantation for primary hyperoxaluria type 1 in an infant with chronic renal failure.
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.
Schürmann
G
G
Department of Surgery, University of Heidelberg, West Germany.
Schärer
K
K
Wingen
A M
AM
Otto
G
G
Herfarth
C
C
D058186:Acute Kidney Injury / Q000150:complications / Q000628:therapy*; D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000628:therapy; D005260:Female; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000150:complications / Q000628:therapy* / Q000652:urine; D007231:Infant, Newborn; D016030:Kidney Transplantation; D016031:Liver Transplantation; D010070:Oxalates / Q000652:urine; D019815:Oxalic Acid; D000637:Transaminases / Q000172:deficiency
D010070:Oxalates; D019815:Oxalic Acid; D000637:Transaminases; C023067:glyoxylate aminotransferase