Primary Hyperoxaluria
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 urin...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2011-01-01
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| Series: | International Journal of Nephrology |
| Online Access: | http://dx.doi.org/10.4061/2011/864580 |
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| author | Jérôme Harambat Sonia Fargue Justine Bacchetta Cécile Acquaviva Pierre Cochat |
| author_facet | Jérôme Harambat Sonia Fargue Justine Bacchetta Cécile Acquaviva Pierre Cochat |
| author_sort | Jérôme Harambat |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-e2f44121de4346cea321664d05a9cf40 |
| institution | OA Journals |
| issn | 2090-214X 2090-2158 |
| language | English |
| publishDate | 2011-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | International Journal of Nephrology |
| spelling | doaj-art-e2f44121de4346cea321664d05a9cf402025-08-20T02:21:14ZengWileyInternational Journal of Nephrology2090-214X2090-21582011-01-01201110.4061/2011/864580864580Primary HyperoxaluriaJérôme Harambat0Sonia Fargue1Justine Bacchetta2Cécile Acquaviva3Pierre Cochat4Service de Pédiatrie, Centre de référence Maladies Rénales Rares du Sud-Ouest, Centre Hospitalier Universitaire de Bordeaux, 33076 Bordeaux, FranceService de Pédiatrie, Centre de référence des Maladies Rénales Rares, Hospices Civils de Lyon et Université de Lyon, 69677 Bron, FranceService de Pédiatrie, Centre de référence des Maladies Rénales Rares, Hospices Civils de Lyon et Université de Lyon, 69677 Bron, FranceMaladies Héréditaires du Métabolisme, Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, 69677 Bron, FranceService de Pédiatrie, Centre de référence des Maladies Rénales Rares, Hospices Civils de Lyon et Université de Lyon, 69677 Bron, FrancePrimary 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.http://dx.doi.org/10.4061/2011/864580 |
| spellingShingle | Jérôme Harambat Sonia Fargue Justine Bacchetta Cécile Acquaviva Pierre Cochat Primary Hyperoxaluria International Journal of Nephrology |
| title | Primary Hyperoxaluria |
| title_full | Primary Hyperoxaluria |
| title_fullStr | Primary Hyperoxaluria |
| title_full_unstemmed | Primary Hyperoxaluria |
| title_short | Primary Hyperoxaluria |
| title_sort | primary hyperoxaluria |
| url | http://dx.doi.org/10.4061/2011/864580 |
| work_keys_str_mv | AT jeromeharambat primaryhyperoxaluria AT soniafargue primaryhyperoxaluria AT justinebacchetta primaryhyperoxaluria AT cecileacquaviva primaryhyperoxaluria AT pierrecochat primaryhyperoxaluria |