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一例PROC基因复合杂合突变致遗传性蛋白C缺乏症患儿的临床诊治

唐晓艳 王薇 马明圣 肖娟

唐晓艳, 王薇, 马明圣, 肖娟. 一例PROC基因复合杂合突变致遗传性蛋白C缺乏症患儿的临床诊治[J]. 协和医学杂志, 2021, 12(3): 396-400. doi: 10.12290/xhyxzz.20190024
引用本文: 唐晓艳, 王薇, 马明圣, 肖娟. 一例PROC基因复合杂合突变致遗传性蛋白C缺乏症患儿的临床诊治[J]. 协和医学杂志, 2021, 12(3): 396-400. doi: 10.12290/xhyxzz.20190024
TANG Xiaoyan, WANG Wei, MA Mingsheng, XIAO Juan. Diagnosis and Management of an Infant with Hereditary Protein C Deficiency with Compound Mutation of PROC Gene[J]. Medical Journal of Peking Union Medical College Hospital, 2021, 12(3): 396-400. doi: 10.12290/xhyxzz.20190024
Citation: TANG Xiaoyan, WANG Wei, MA Mingsheng, XIAO Juan. Diagnosis and Management of an Infant with Hereditary Protein C Deficiency with Compound Mutation of PROC Gene[J]. Medical Journal of Peking Union Medical College Hospital, 2021, 12(3): 396-400. doi: 10.12290/xhyxzz.20190024

一例PROC基因复合杂合突变致遗传性蛋白C缺乏症患儿的临床诊治

doi: 10.12290/xhyxzz.20190024
详细信息
    通讯作者:

    肖娟 电话:010-69156256,E-mail:xiaojuan@pumch.cn

  • 中图分类号: R596; R722

Diagnosis and Management of an Infant with Hereditary Protein C Deficiency with Compound Mutation of PROC Gene

More Information
  • 摘要:

    遗传性蛋白C缺乏症(hereditary protein C deficiency,HPCD)主要表现为罕见的新生儿期暴发性紫癜,疾病进展迅速,死亡率高,诊治困难,早期识别和正确诊治可显著改善预后。本文报道1例PROC基因复合杂合突变所致的新生儿HPCD,患儿出生后24 h内即出现反复皮肤紫癜,6月龄前辗转就诊于国内多家医院,未明确诊断。我院就诊期间查患儿凝血功能异常,蛋白C水平极低,通过静脉输注新鲜冰冻血浆及长期口服抗凝药物治疗,患儿病情控制良好,该病例为国内首例成功救治的最小年龄HPCD病例。儿科医师在临床实践中应提高对该病的早期识别能力;新鲜冰冻血浆联合口服抗凝药物治疗HPCD效果确切,在无蛋白C浓缩物的情况下,临床上可考虑该治疗方案。

    作者贡献:唐晓艳负责文章撰写及分析讨论;肖娟负责文章审校;王薇负责病例遗传咨询;马明圣负责病例管理。
    利益冲突  无
  • 图  1  患儿臀部及腿部皮肤表现

    A.出生后数小时臀部紫癜;B.臀部皮肤结痂,瘢痕形成;C.腿部皮肤结痂;D.腿部皮肤新发瘀斑

    图  2  患儿及其父母PROC基因测序图

    表  1  不同治疗时期患儿凝血功能检查结果

    项目 4月龄 6月龄 输注血浆前 输注血浆后 参考值范围
    血小板(×109/L) 280 300 280 276 100~350
    PT(s) 21.6 13.8 19.3 12.7 13.5~16.4
    APTT(s) 91.6 36.3 39.9 36.8 29.5~42.2
    FBG(g/L) 0.18 0.77 0.63 2.9 2.83~4.01
    D-二聚体(mg/L) 28.80 4.80 27.37 0.60 0~0.55
    蛋白C活性(%) <1 1 8 60~140
    PT:凝血酶原时间;APTT:活化部分凝血活酶时间;FBG:纤维蛋白原
    下载: 导出CSV
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出版历程
  • 收稿日期:  2019-01-24
  • 录用日期:  2019-05-27
  • 网络出版日期:  2020-06-05
  • 刊出日期:  2021-05-30

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