Coman D, Huang J, McTaggart S, Sakamoto O, Ohura T, McGill J, Burke J
Department of Metabolic Medicine, The Royal Children's Hospital, Brisbane, Australia.
Pediatr Nephrol. 2006 Feb;21(2):270-3. doi: 10.1007/s00467-005-2071-x. Epub 2005 Oct 25.
Renal tubular dysfunction and chronic renal failure are well recognised complications of methylmalonic acidaemia (MMA) and can occur even in the context of optimal medical metabolic management. Organ transplantation, such as renal and combined liver and renal transplants, have been utilised in the past for children whose disease cannot be managed by conservative medical practices and those with end stage renal disease. Our patient was diagnosed with B(12)-responsive MMA (subsequently proven to be cblA-type MMA) in the postoperative period following renal transplantation for idiopathic chronic renal failure. She remains well, with excellent graft function and metabolic control 4 years after transplantation. This patient highlights the importance of testing for the inborn errors of metabolism in patients presenting with recurrent acidosis and progressive renal impairment.
肾小管功能障碍和慢性肾衰竭是甲基丙二酸血症（MMA）公认的并发症，即使在最佳的医学代谢管理情况下也可能发生。过去，对于那些疾病无法通过保守医疗方法控制的儿童以及患有终末期肾病的儿童，已经采用了器官移植，如肾移植以及肝肾联合移植。我们的患者在因特发性慢性肾衰竭接受肾移植后的术后期间被诊断为维生素B12反应性MMA（随后被证实为cblA型MMA）。移植4年后，她情况良好，移植肾功能良好，代谢得到有效控制。该患者凸显了对出现反复酸中毒和进行性肾功能损害的患者进行先天性代谢缺陷检测的重要性。
