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

Pierre Cochat, Sally Anne Hulton, Cécile Acquaviva, Christopher J. Danpure, Michel Daudon, Mario De Marchi, Sonia Fargue, Jaap Groothoff, Jérôme Harambat, Bernd Hoppe, Neville V. Jamieson, Markus J. Kemper, Giorgia Mandrile, Martino Marangella, Stefano Picca, Gill Rumsby, Eduardo Salido, Michael Straub, Christiaan S. van Woerden, [No Value] OxalEurope

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)1729-1736
Number of pages8
JournalNephrology Dialysis Transplantation
Volume27
Issue number5
Publication statusPublished - May 2012

ASJC Scopus subject areas

  • Medicine(all)

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    Cochat, P., Hulton, S. A., Acquaviva, C., Danpure, C. J., Daudon, M., De Marchi, M., Fargue, S., Groothoff, J., Harambat, J., Hoppe, B., Jamieson, N. V., Kemper, M. J., Mandrile, G., Marangella, M., Picca, S., Rumsby, G., Salido, E., Straub, M., van Woerden, C. S., & OxalEurope, N. V. (2012). Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment. Nephrology Dialysis Transplantation, 27(5), 1729-1736.