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原发性高草酸尿症伴肾衰竭的治疗选择有限。

Limited Treatment Options in Primary Hyperoxaluria with Renal Failure.

作者信息

Geiger Kyle, Mroch Henry

机构信息

Elson S. Floyd College of Medicine, Washington State University, Spokane, Washington, USA.

Kidney Care Spokane, Spokane, Washington, USA.

出版信息

Case Rep Nephrol Dial. 2020 Oct 5;10(3):104-108. doi: 10.1159/000510143. eCollection 2020 Sep-Dec.

Abstract

Primary hyperoxaluria (PH) is a rare autosomal recessive metabolic disorder where serum oxalate levels rise due to overproduction. The kidney tubule is a main target for oxalate deposition, resulting in damage to the organ. Kidney failure is rare in these patients. We present a 67-year-old female with hemodialysis-dependent end-stage renal disease likely due to PH type 2 or 3. With extremely high levels of serum oxalate (60.4 μmol/L), this patient had minimal treatment options for her rare disease. This report details a unique presentation of a rare disease where kidney biopsy was instrumental.

摘要

原发性高草酸尿症(PH)是一种罕见的常染色体隐性代谢紊乱疾病,因草酸过度生成导致血清草酸水平升高。肾小管是草酸沉积的主要靶点,会导致该器官受损。这些患者很少出现肾衰竭。我们报告了一名67岁女性,患有依赖血液透析的终末期肾病,可能由2型或3型PH引起。该患者血清草酸水平极高(60.4 μmol/L),针对这种罕见疾病,她的治疗选择极少。本报告详细介绍了一种罕见疾病的独特表现,其中肾活检起到了重要作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/827c/7588674/4e15e901f4f7/cnd-0010-0104-g01.jpg

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