Renal transplantation in a 14-year-old girl with vitamin B12-responsive cblA-type methylmalonic acidaemia
Renal transplantation in a 14-year-old girl with vitamin B12-responsive cblA-type methylmalonic acidaemia
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DOI：
10.1007/s00467-005-2071-x
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发表时间：
2006-02-01
影响因子：
3
通讯作者：
Burke, J
中科院分区：
文献类型：
--
作者：
Coman, D;Huang, J;Burke, J
肾小管功能障碍和慢性肾衰竭是公认的甲基丙二酸血症（MMA）并发症，即使在最佳药物代谢管理的背景下也可能发生。器官移植，如肾移植和肝肾联合移植，过去曾用于保守医疗无法治疗的儿童和终末期肾病患者。我们的患者在因特发性慢性肾功能衰竭进行肾移植后的术后期间被诊断为B-12反应性MMA（随后被证实为cblA型MMA）。移植后4年，她仍然保持良好的移植功能和代谢控制。这位病人强调了对反复发作的酸中毒和进行性肾损害的病人进行先天性代谢缺陷检测的重要性。
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.