| Literature DB >> 23879652 |
Funda Taşlı1, Güliz Özkök, Ebru Sevinç Ok, Nur Soyer, Hülya Mollamehmetoğlu, Enver Vardar.
Abstract
Primary hyperoxaluria is a rare autosomal recessive disorder. Type 1 PH is the most common form and develops due to a defect in a liver specific enzyme the alanine aminotransferase enzyme. As a result of the enzyme deficiency, there is an overproduction of oxalate and excessive urinary excretion. Recurrent urolithiasis and nephrocalcinosis are the most important findings of the disorder and often at the beginning end-stage renal disease develops. This report presents a case backed up by literature of a patient with end stage renal failure and erythropoietin-resistant anaemia whose bone marrow biopsy showed crystal deposition which received delayed diagnosis of oxalosis.Entities:
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Year: 2013 PMID: 23879652 DOI: 10.3109/0886022X.2013.815564
Source DB: PubMed Journal: Ren Fail ISSN: 0886-022X Impact factor: 2.606