Primary Hyperoxaluria
Joint Authors
Harambat, Jérôme
Bacchetta, Justine
Cochat, Pierre
Acquaviva, Cécile
Fargue, Sonia
Source
International Journal of Nephrology
Issue
Vol. 2011, Issue 2011 (31 Dec. 2011), pp.1-11, 11 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2011-06-16
Country of Publication
Egypt
No. of Pages
11
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Harambat, Jérôme& Fargue, Sonia& Bacchetta, Justine& Acquaviva, Cécile& Cochat, Pierre. 2011. Primary Hyperoxaluria. International Journal of Nephrology،Vol. 2011, no. 2011, pp.1-11.
https://search.emarefa.net/detail/BIM-504490
Modern Language Association (MLA)
Harambat, Jérôme…[et al.]. Primary Hyperoxaluria. International Journal of Nephrology No. 2011 (2011), pp.1-11.
https://search.emarefa.net/detail/BIM-504490
American Medical Association (AMA)
Harambat, Jérôme& Fargue, Sonia& Bacchetta, Justine& Acquaviva, Cécile& Cochat, Pierre. Primary Hyperoxaluria. International Journal of Nephrology. 2011. Vol. 2011, no. 2011, pp.1-11.
https://search.emarefa.net/detail/BIM-504490
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-504490