遗传性血栓性血小板减少性紫癜1例报告并文献复习

刘阳; 王娴静

doi:10.13201/j.issn.1004-2806.2019.05.015

遗传性血栓性血小板减少性紫癜1例报告并文献复习

刘阳,
王娴静^,

- 郑州市第三人民医院血液科(郑州, 450000)

详细信息

通讯作者: 王娴静,E-mail:xianjingwang@126.com

中图分类号: R558.2

收稿日期: 2017-12-06

A case of hereditary thrombotic thrombocytopenic purpura and literature review

LIU Yang,
WANG Xianjing^,

More Information

Corresponding author: WANG Xianjing, E-mail: xianjingwang@126.com

Received Date: 06 December 2017

摘要

- 遗传性血栓性血小板减少性紫癜 /
- ADAMTS13 /
- 诊断 /
- 治疗
Abstract: To explore the clinical characteristics of hereditary thrombotic thrombocytopenic purpura (TTP),this paper reported the clinical manifestations,laboratory findings and management of a one-year-old child with hereditary TTP,and reviewed related literatures.The child presented with fever,anemia,purpura and jaundice.The schistocyte of peripheral blood smear was increased,the activity of ADAMTS13 was less than 5%,the ADAMTS13 autoantibody was negative and the ADAMTS13 occurred gene mutation.The patient was treated successfully by plasma infusion.Hereditary TTP is a rare and life-threatening emergency,the possibility of TTP should be emphasized when patient with hemolytic anemia and thrombocytopenia,and the detection of ADAMTS13 is helpful for diagnosis.In some cases of thrombocytopenia of unknown origin in infancy,the resolution of symptoms after infusion of plasma may point towards the diagnosis.Administration of fresh frozen plasma usually resolves acute bouts of the disease,followed by regular fresh frozen plasma infusion.
- hereditary thrombotic thrombocytopenic purpura /
- ADAMTS13 /
- diagnosis /
- treatment

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参考文献(10)

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