反复横纹肌溶解、肾功能不全伴血色病一例  

Recurrent Rhabdomyolysis and Renal Insufficiency in a Patient with Hemochromatosis

作　　者：周梦兰[1] 张磊[2] 叶文玲[2] 高瑞通[2] ZHOU Menglan;ZHANG Lei;YE Wenling;GAO Ruitong(Department of Clinical Laboratory,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Bejjing 100730,China;Department of Nephrology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Bejjing 100730,China)

机构地区：[1]中国医学科学院北京协和医院检验科,北京100730 [2]中国医学科学院北京协和医院肾内科,北京100730

出　　处：《协和医学杂志》2023年第5期1096-1100,共5页Medical Journal of Peking Union Medical College Hospital

基　　金：清华大学-北京协和医院自主科研联合资助项目(2019ZLH202)。

摘　　要：极长链酰基辅酶A脱氢酶(very long chain acyl-CoA dehydrogenase, VLCAD)缺乏症是一种罕见的常染色体隐性遗传病,其中以3型即迟发性间歇肌病型最为常见,临床表现为运动、感染、饥饿等诱发的反复横纹肌溶解。本文首次报道1例自幼起反复发作横纹肌溶解、并伴有肾功能不全和血色病病史的患者,全外显子测序发现ACADVL基因复合杂合突变,符合3型VLCAD缺乏症的诊断。进一步通过肾穿刺活检明确了该患者肾功能不全的病因,其肾脏病理以肾小管间质损伤为主要表现,未见脂质及铁沉积,为3型VLCAD缺乏症横纹肌溶解的并发症。本文回顾该患者的诊治过程并结合文献复习,以期为肾功能不全这一临床常见症状的罕见病因提供鉴别诊断思路。Very long chain acyl-CoA dehydrogenase(VLCAD)deficiency,an autosomal recessive inherited disease,can be classified into three types.Type 3 VLCAD deficiency,also named as delayed intermittent myopathy,is the most common type,which can be manifested as recurrent rhabdomyolysis induced by exercise,infection or hunger.We reported the first case of recurrent rhabdomyolysis since childhood,with renal insufficiency and a history of hemochromatosis.Whole exon sequencing revealed a compound heterozygous mutation of ACADVL gene,consistent with the diagnosis of type 3 VLCAD deficiency.Further,we performed a renal biopsy to clarify the causes of the patient's renal insufficiency,which showed a tubulointerstitial injury with no lipid or iron deposition.Through reviewing the diagnosis and treatment process of this case and literature review,we hope to provide insights for the differential diagnosis of common clinical renal insufficiency induced by rare causes.

关 键 词：横纹肌溶解 肾功能不全 血色病 极长链酰基辅酶A脱氢酶缺乏症 

分 类 号：R692[医药卫生—泌尿科学] R596[医药卫生—外科学]