成人原发性I型高草酸尿症的初始表现——识别、诊断与管理

Dept of Internal Medicine, Kaiser Permanente Medical Center, Panorama City, CA 91402-5497, USA.

West J Med. 1996 Jan;164(1):42-53.

Primary hyperoxaluria type I may initially manifest as urolithiasis, renal insufficiency, or symptoms of systemic oxalosis. This hereditary disorder was fatal until effective therapies evolved during the past two decades. Difficulty in recognizing and diagnosing this disorder in adults is illustrated in a report of a patient eventually restored to good health by high-flux dialysis and combined renal and hepatic transplantation. I explore the molecular processes of the genetic defect and discuss clinical indicators of primary hyperoxaluria type I, manifestations of oxalosis, the pathogenesis of chronic oxalate nephropathy, and the diagnosis and management of this disease.

I型原发性高草酸尿症最初可能表现为尿路结石、肾功能不全或全身性草酸中毒症状。在过去二十年有效的治疗方法出现之前，这种遗传性疾病是致命的。一份关于一名患者的报告说明了在成人中识别和诊断这种疾病的困难，该患者最终通过高通量透析以及肾肝联合移植恢复了健康。我探讨了这种基因缺陷的分子过程，并讨论了I型原发性高草酸尿症的临床指标、草酸中毒的表现、慢性草酸肾病的发病机制以及该疾病的诊断和管理。