Primary hyperoxaluria Type 1 is a rare autosomal recessive inborn error of glyoxylate metabolism, caused by a deficiency of the liver-specific enzyme alanine:glyoxylate aminotransferase. The disorder results in overproduction and excessive urinary excretion of oxalate, causing recurrent urolithiasis and nephrocalcinosis. As glomerular filtration rate declines due to progressive renal involvement, oxalate accumulates leading to systemic oxalosis. The diagnosis is based on clinical and sonographic findings, urine oxalate assessment, enzymology and/or DNA analysis. Early initiation of conservative treatment (high fluid intake, pyridoxine, inhibitors of calcium oxalate crystallization) aims at maintaining renal function. In chronic kidney disease Stages 4 and 5, the best outcomes to date were achieved with combined liver–kidney transplantation.

Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment

DE MARCHI, Mario;MANDRILE, Giorgia;AMOROSO, Antonio;
2012-01-01

Abstract

Primary hyperoxaluria Type 1 is a rare autosomal recessive inborn error of glyoxylate metabolism, caused by a deficiency of the liver-specific enzyme alanine:glyoxylate aminotransferase. The disorder results in overproduction and excessive urinary excretion of oxalate, causing recurrent urolithiasis and nephrocalcinosis. As glomerular filtration rate declines due to progressive renal involvement, oxalate accumulates leading to systemic oxalosis. The diagnosis is based on clinical and sonographic findings, urine oxalate assessment, enzymology and/or DNA analysis. Early initiation of conservative treatment (high fluid intake, pyridoxine, inhibitors of calcium oxalate crystallization) aims at maintaining renal function. In chronic kidney disease Stages 4 and 5, the best outcomes to date were achieved with combined liver–kidney transplantation.
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http://www.oxfordjournals.org/our_journals/ndt/about.html
combined liver–kidney transplantation, nephrocalcinosis, oxalosis, primary hyperoxaluria type 1, urolithiasis; genetic test
Cochat P;Hulton SA; Acquaviva C; Danpure CJ; Daudon M; De Marchi M; Fargue S; Groothoff J; Harambat J; Hoppe B; Jamieson NV; Kemper MJ; Mandrile G; Marangella M; Picca S; Rumsby G; Salido E; Straub M; van Woerden CS; Amoroso A; Beck BB; Berthiller J; De Broe M; Canoui-Poitrine F; Cellini B; Cochat P; Danpure C; Fargue S; Groothoff J; Guittard L; Harambat J; Hoppe B; Hulton SA; Jacob DE; Kemper M; Kleta R; Latta K; Mandrile G; Marangella M; di Marchi M; Peruzzi L; Rumsby G; Salido E; Schmidtko J; von Schnakenburg C; Schott AM; Sikora P; Straub M; Verhulst A; Wanders RJ; Wijburg FA; van Woerden C.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2318/104759
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