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反复横纹肌溶解、肾功能不全伴血色病一例

周梦兰 张磊 叶文玲 高瑞通

周梦兰, 张磊, 叶文玲, 高瑞通. 反复横纹肌溶解、肾功能不全伴血色病一例[J]. 协和医学杂志, 2023, 14(5): 1096-1100. doi: 10.12290/xhyxzz.2023-0107
引用本文: 周梦兰, 张磊, 叶文玲, 高瑞通. 反复横纹肌溶解、肾功能不全伴血色病一例[J]. 协和医学杂志, 2023, 14(5): 1096-1100. doi: 10.12290/xhyxzz.2023-0107
ZHOU Menglan, ZHANG Lei, YE Wenling, GAO Ruitong. Recurrent Rhabdomyolysis and Renal Insufficiency in a Patient with Hemochromatosis[J]. Medical Journal of Peking Union Medical College Hospital, 2023, 14(5): 1096-1100. doi: 10.12290/xhyxzz.2023-0107
Citation: ZHOU Menglan, ZHANG Lei, YE Wenling, GAO Ruitong. Recurrent Rhabdomyolysis and Renal Insufficiency in a Patient with Hemochromatosis[J]. Medical Journal of Peking Union Medical College Hospital, 2023, 14(5): 1096-1100. doi: 10.12290/xhyxzz.2023-0107

反复横纹肌溶解、肾功能不全伴血色病一例

doi: 10.12290/xhyxzz.2023-0107
基金项目: 

清华大学-北京协和医院自主科研联合资助项目 2019ZLH202

详细信息
    通讯作者:

    张磊, E-mail: zhanglei55@pumch.cn

  • 中图分类号: R692;R596

Recurrent Rhabdomyolysis and Renal Insufficiency in a Patient with Hemochromatosis

Funds: 

Tsinghua University-Peking Union Medical College Hospital Initiative Scientific Research Program 2019ZLH202

More Information
  • 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。
    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
    下载: 导出CSV
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出版历程
  • 收稿日期:  2023-03-06
  • 录用日期:  2023-05-23
  • 刊出日期:  2023-09-30

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