Geiger Kyle, Mroch Henry
Elson S. Floyd College of Medicine, Washington State University, Spokane, Washington, USA.
Kidney Care Spokane, Spokane, Washington, USA.
Case Rep Nephrol Dial. 2020 Oct 5;10(3):104-108. doi: 10.1159/000510143. eCollection 2020 Sep-Dec.
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.
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。