Abstract
Primary hyperoxaluria type 1 (PH-1) is a rare autosomal recessive disease caused by the absence or deficiency of the liver-specific intermediary metabolic enzyme alanine glyoxylate aminotransferase. The prognosis of this metabolic disease is poor. Theoretically, the primary metabolic defect can be cured by liver transplantation. However, controversy exists around the age and stage of the disease that liver transplantation should be performed. We report on a patient who presented at the early age of 2 months with nephrocalcinosis. Isolated liver transplantation was performed at the age of 21 months. Eight years later, the estimated glomerular filtration rate was 85 ml/min/1.73 m2, and imaging studies did not reveal nephrocalcinosis. This case report supports the strategy of early isolated liver transplantation in patients with PH-1.
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Galanti, M., Contreras, A. Excellent renal function and reversal of nephrocalcinosis 8 years after isolated liver transplantation in an infant with primary hyperoxaluria type 1. Pediatr Nephrol 25, 2359–2362 (2010). https://doi.org/10.1007/s00467-010-1593-z
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DOI: https://doi.org/10.1007/s00467-010-1593-z