Riksen N P, Timmers H J L M, Assmann K J M, Huysmans F Th M
Department of Nephrology, University Medical Centre St Radboud, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
Neth J Med. 2002 Nov;60(10):407-10.
Primary hyperoxaluria type 1 (PH1) usually presents with recurrent urolithiasis, nephrocalcinosis and progressive renal failure at a relatively young age. This report describes a patient who, due to the late onset of end-stage renal disease, had been diagnosed with PH1 only after failure of his second kidney graft. Retrospectively, his vascular problems, skeletal abnormalities and cardiac arrhythmias fit the picture of severe systemic oxalosis. Possible therapeutic options are discussed.
1型原发性高草酸尿症(PH1)通常在相对年轻时就表现为复发性尿路结石、肾钙质沉着症和进行性肾衰竭。本报告描述了一名患者,由于终末期肾病发病较晚,他在第二次肾移植失败后才被诊断出患有PH1。回顾性分析,他的血管问题、骨骼异常和心律失常符合严重全身性草酸中毒的表现。文中讨论了可能的治疗选择。