遗传性无纤维蛋白原血症1例并文献复习

陆美荣; 焦蓓蕾; 韦红英

doi:10.13201/j.issn.1004-2806.2018.11.015

遗传性无纤维蛋白原血症1例并文献复习

- 广西医科大学第一附属医院儿科(南宁, 530021)
基金项目:
广西自然科学基金项目(No:2016GXNSFAA380161)

详细信息

通讯作者: 韦红英,E-mail:whylhr@qq.com

中图分类号: R554.5

收稿日期: 2017-04-30

A case of congenital afibrinogenemia and literature review

More Information

Corresponding author: , E-mail: whylhr@qq.com

Received Date: 30 April 2017

摘要

- 遗传性无纤维蛋白原血症 /
- 基因突变 /
- 临床特点
Abstract: The clinical data of a family with congenital afibrinogenmia were collected and analyzed respectively.Laboratory tests including APTT,PT,TT and the activities of AT:C were detected in one pedigrees.The activity and antigen of plasma fibrinogen（Fg）were analyzed by Clauss and immunoturbidimetry methods,respectively.The sequences of all the exons and exonintron boundaries of the three Fg genes FGA,FGB and FGG were amplified by PCR and the Sanger dideoxy chain-termination method.The proband presented frequently with episodes of subcutaneous bleeding,gum bleeding and epistaxis from a child.The proband’s parents were all asymptomatic,never had any bleeding tendency or experience of thrombotic complications,and their coagulation routine tests were either normal.The proband had normal FⅧ,FⅨ,FⅪ,FⅫ activity,but prolonged APTT,PT and TT.No Fg was detected in the plasma of the proband.A homozygous C to T mutation was found in the two cases at nucleotide 448 in exon 4 of FGA gene,resulting in a null mutation which encoded severely truncated alpha-chains owing to its premature termination at the Gln 150 codon.The proband’s father and mother were heterozygous.The Gln（CAG）-150 stop（TAG）nonsense mutation in FGA gene is a novel genetic defect of congenital afibrinogenemia in the family.
- congenital afibrinogenamia /
- gene mutations /
- clinical feature

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参考文献(13)

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