晚发型多种酰基辅酶A脱氢酶缺乏症伴急性肾衰竭的病例分析

Late-onset multiple acyl-CoA dehydrogenase deficiency with acute renal failure:Case report

晚发型多种酰基辅酶A脱氢酶缺乏症(MADD)是一种脂肪酸氧化代谢障碍的常染色体隐性遗传病,主要病因为电子转运黄素蛋白脱氢酶基因变异,起病隐匿,常因出现脂质沉积性肌病才被临床发现,易被误诊为多发性肌炎,但是出现急性肾衰竭者少见。现报道1例女性患儿以肌无力和肌痛为首发表现,病初疑诊“多发性肌炎”,病程中出现急性肾衰竭,经大剂量甲泼尼松龙冲击、血浆置换、连续性血液净化等治疗效果不佳,最终进行基因测序发现ETFDH基因的复合杂合变异[C.770A>G(p.Y257C),C.872T>G(p.V291G)],确诊为晚发型MADD,经大剂量核黄素治疗后好转。晚发型MADD的症状和体征多但缺乏特异性,临床诊断、鉴别较困难,基因检测明确诊断后,疾病稳定期应用大剂量核黄素可纠正患儿的临床症状和生化紊乱。

Late-onset multiple acyl-CoA dehydrogenase deficiency(late-onset MADD)is an autosomal recessive disorder of fatty acid oxidative metabolism,mainly caused by mutations in the electrom transfer flavoprotein dehydrogenase gene.It has an insidious onset,is often detected clinically only when symptoms of lipid deposition myopathy are present,and is easily misdiagnosed as polymyositis,but the development of acute renal failure is rare.We report a case of a female child with muscle weakness and myalgia as the first manifestation,who was initially suspected of having polymyositis.The patient subsequently presented with acute renal failure and was treated with methylprednisolone pulse therapy and continuous renal replacement therapy(CRRT)with poor results.The diagnosis of MADD was confirmed by the sequencing of the compound heterozygous variants C.770A>G(p.Y257C)and C.872T>G(p.V291G)of the ETFDH gene,which improved with high-dose riboflavin therapy.The symptoms and signs of late-onset MADD are numerous but lack specificity,making clinical diagnosis and differentiation more difficult.After genetic testing to clarify the diagnosis,the application of high dose riboflavin during the stable phase can completely correct the clinical symptoms and biochemical disorders in children.