title: Primary hyperoxaluria.
abstract: Primary hyperoxalurias (PH) are inborn errors in the metabolism of glyoxylate and oxalate. PH type 1, the most common form, is an autosomal recessive disorder caused by a deficiency of the liver-specific enzyme alanine, glyoxylate aminotransferase (AGT) resulting in overproduction and excessive urinary excretion of oxalate. Recurrent urolithiasis and nephrocalcinosis are the hallmarks of the disease. As glomerular filtration rate decreases due to progressive renal damage, oxalate accumulates leading to systemic oxalosis. Diagnosis is often delayed and is based on clinical and sonographic findings, urinary oxalate assessment, DNA analysis, and, if necessary, direct AGT activity measurement in liver biopsy tissue. Early initiation of conservative treatment, including high fluid intake, inhibitors of calcium oxalate crystallization, and pyridoxine in responsive cases, can help to maintain renal function in compliant subjects. In end-stage renal disease patients, the best outcomes have been achieved with combined liver-kidney transplantation which corrects the enzyme defect.
authors: Service de Pédiatrie, Centre de référence Maladies Rénales Rares du Sud-Ouest, Centre Hospitalier Universitaire de Bordeaux, 33076 Bordeaux, France.
authors: Jérôme
authors: J
authors: Harambat
authors: Sonia
authors: S
authors: Fargue
authors: Justine
authors: J
authors: Bacchetta
authors: Cécile
authors: C
authors: Acquaviva
authors: Pierre
authors: P
authors: Cochat