Academic Journal
Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment
| العنوان: | Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment |
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| المؤلفون: | Cochat P, Hulton SA, Acquaviva C, Danpure CJ, Daudon M, Fargue S, Groothoff J, Harambat J, Hoppe B, Jamieson NV, Kemper MJ, Marangella M, Picca S, Rumsby G, Salido E, Straub M, van Woerden CS, Beck BB, Berthiller J, De Broe M, Canoui Poitrine F, Cellini B, Danpure C, Guittard L, Jacob DE, Kemper M, Kleta R, Latta K, Mandrile G, di Marchi M, Peruzzi L, Schmidtko J, von Schnakenburg C, Schott AM, Sikora P, Verhulst A, Wanders RJ, Wijburg FA, van Woerden C., DE MARCHI, Mario, MANDRILE, Giorgia, AMOROSO, Antonio |
| المساهمون: | 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, Danpure C, Guittard L, Jacob DE, Kemper M, Kleta R, Latta K, di Marchi M, Peruzzi L, Schmidtko J, von Schnakenburg C, Schott AM, Sikora P, Verhulst A, Wanders RJ, Wijburg FA, van Woerden C. |
| سنة النشر: | 2012 |
| المجموعة: | Università degli studi di Torino: AperTo (Archivio Istituzionale ad Accesso Aperto) |
| مصطلحات موضوعية: | combined liver–kidney transplantation, nephrocalcinosis, oxalosis, primary hyperoxaluria type 1, urolithiasi, genetic test |
| الوصف: | 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. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | STAMPA |
| اللغة: | English |
| Relation: | info:eu-repo/semantics/altIdentifier/pmid/22547750; info:eu-repo/semantics/altIdentifier/wos/WOS:000303596000009; volume:27; issue:5; firstpage:1729; lastpage:1736; numberofpages:8; journal:NEPHROLOGY DIALYSIS TRANSPLANTATION; http://hdl.handle.net/2318/104759; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84865960907; http://www.oxfordjournals.org/our_journals/ndt/about.html |
| DOI: | 10.1093/ndt/gfs078 |
| الاتاحة: | http://hdl.handle.net/2318/104759 https://doi.org/10.1093/ndt/gfs078 http://www.oxfordjournals.org/our_journals/ndt/about.html |
| Rights: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.2FCAC9FD |
| قاعدة البيانات: | BASE |
| DOI: | 10.1093/ndt/gfs078 |
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