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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。
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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
Abstract: 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.作者贡献：周梦兰、张磊负责论文撰写及修订；叶文玲、高瑞通负责提出修改意见。利益冲突：所有作者均声明不存在利益冲突注：本研究发表已获得患者知情同意。 -
图 1 患者肾脏穿刺病理表现
A.肾小管刷状缘脱落和上皮细胞扁平化(红色箭头)，肾小管上皮细胞修复再生(绿色箭头)，符合肾小管损伤的表现(PAS, ×200)；B.可见肾间质纤维化(PASM, ×100)
表 1 2021年12月发病后患者血生化指标变化
实验室检查 检查日期 正常范围 2021-12-30 2022-1-25 谷丙转氨酶(U/L) 749 12 9~50 谷草转氨酶(U/L) 3561.2 16 15~40 总胆红素(μmol/L) 18.96 8.8 5.1~22.2 肌酐(μmol/L) 150 130 59~104 乳酸脱氢酶(U/L) 1878 160 0~250 肌酸激酶(U/L) ＞2000 89 24~195 肌红蛋白(μg/L) ＞1200 38 ≤110 
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