Department of Pathology, Bozyaka Training and Research Hospital, Izmir, Turkey.
Ren Fail. 2013 Sep;35(8):1167-9. doi: 10.3109/0886022X.2013.815564. Epub 2013 Jul 23.
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.
原发性高草酸尿症是一种罕见的常染色体隐性遗传病。1 型 PH 是最常见的形式,由于肝脏特异性酶丙氨酸氨基转移酶的缺陷而发展。由于酶的缺乏,草酸的产量增加,尿中排泄过多。复发性尿路结石和肾钙质沉着症是该疾病最重要的发现,并且通常在开始时会发展为终末期肾病。本报告通过文献报道了一例终末期肾衰竭和红细胞生成素抵抗性贫血患者的病例,其骨髓活检显示晶体沉积,该患者被延迟诊断为草酸病。