Massive bone marrow involvement in an end stage renal failure case with erythropoietin-resistant anemia and primary hyperoxaluria

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 excr...

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Veröffentlicht in:Renal failure 2013-09, Vol.35 (8), p.1167-1169
Hauptverfasser: Ta l, Funda, Özkök, Güliz, Ok, Ebru Sevinç, Soyer, Nur, Mollamehmeto lu, Hülya, Vardar, Enver
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Sprache:eng
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Zusammenfassung: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.
ISSN:0886-022X
1525-6049
DOI:10.3109/0886022X.2013.815564