异常纤维蛋白原血症一例并文献复习  

One case of abnormal fibrinogenemia and literature review

作　　者：陈坤 肖艰[1] 潘崚[2] Chen Kun;Xiao Jian;Pan Ling(Department of Hematology,First People's Hospital of Zigong,Zigong 643000,Sichuan Province,China;Department of Hematology,West China Hospital of Sichuan University,Chengdu 610041,Sichuan Province,China)

机构地区：[1]四川省自贡市第一人民医院血液科,643000 [2]四川大学华西医院血液科,成都610041

出　　处：《国际输血及血液学杂志》2020年第1期62-66,共5页International Journal of Blood Transfusion and Hematology

摘　　要：目的探讨异常纤维蛋白原血症的临床特点,以及诊断与治疗方法。方法选择2018年7月30日自贡市第一人民医院收治的1例异常纤维蛋白原血症患者为研究对象。本例患者为女性,52岁。对患者进行纯音测听检查、凝血功能检查,以及FGA、FGB、FGG基因测序。根据患者临床表现、实验室检查结果对患者进行诊断与治疗。随访截至2019年8月。采用回顾性分析方法,收集本例患者的临床病例资料,并对其临床表现与诊治过程进行分析。此外,检索中国知网数据库、万方数据知识服务平台及PubMed数据库中与本例患者FGA基因突变相同的病例报道。检索时间为数据库建库至2018年12月31日。总结与本例异常纤维蛋白原血症患者相关的基因突变类型、患者的出血及血栓症状等。本研究符合2013年修订的《世界医学协会赫尔辛基宣言》要求。结果①本例患者因"左侧听力下降1+个月"于2018年7月30日就诊于自贡市第一人民医院耳鼻喉外科。患者主诉耳鸣、头昏、腰痛,无口腔、牙龈出血,无皮下淤点、淤斑,无呕血、咯血,无腹痛、腹泻、黑便等。患者既往体健,家系中一、二级亲属均无出血及血栓疾病史。②本例患者入院后,纯音测听检查结果示,左侧耳中-重度感音神经性聋。凝血功能检查结果示,凝血酶原时间(PT)为11.3 s,活化部分凝血活酶时间(APTT)为23.4 s,凝血酶时间(TT)为48.4 s,纤维蛋白原值为0.31 g/L。③本例患者纤维蛋白原基因测序结果示,FGA基因2号外显子c.104G>A(p.Arg35His)错义突变,1号外显子c.16A>G(p.Ile6Val)错义突变,并且均为杂合突变。④本例患者诊断为异常纤维蛋白原血症、左侧感音神经性聋;鉴于患者及家族成员无出血及血栓疾病史,患者无口腔、牙龈出血,无皮下淤点、淤斑,无呕血、咯血,无黑便等出血倾向,未予纤维蛋白原输注等特殊治疗,仅进行临床观察。截至随访结束,患�Objective To explore the clinical characteristics,diagnosis and treatment of abnormal fibrinogenemia.Methods On July 30,2018,one case of patient with abnormal fibrinogenemia who was admitted at First People′s Hospital of Zigong was selected as the research subject.The patient was female,and 52 years old.The tests of pure tone audiometry,coagulation function were performed in this patient.And FGA,FGB and FGG genes of patients were sequenced.Patient was diagnosed and treated based on her clinical manifestations,laboratory test results.Follow-up was conducted until August 2019.Retrospective analysis method was used to collect the clinical data of this patient,and to analyze her clinical manifestations,diagnosis and treatment process.In addition,China National Knowledge Infrastructure database,Wanfang Data Knowledge Service Platform,PubMed database were searched for the same case reports as the patient′s genetic mutation.The retrieval time is from the database inception to December 31,2018.This article summarizes types of genetic mutations related to this patient with abnormal fibrinogenemia,patients′bleeding and thrombotic symptoms,and so on.This study meets the requirements of the World Medical Association Declaration of Helsinki revised in 2013.Results①On July 30,2018,the patient was admitted to Department of Otorhinolaryngology of First People′s Hospital of Zigong due to"left hearing loss for 1+months".The patient complained of tinnitus,dizziness,low back pain,no oral cavity and gingival bleeding,no subcutaneous petechiae and ecchymosis,no hemoptysis,no abdominal pain and diarrhea,no black stools,etc..The patient was in good health,and there was no history of bleeding and thrombosis in the first and second degree relatives of the family.②After the patient was admitted,pure tone audiometry showed that moderate-severe sensorineural hearing loss of the left ear.Results of coagulation function test showed that prothrombin time(PT)was 11.3 s,activated partial thromboplastin time(APTT)was 23.4 s,thrombin ti

关 键 词：纤维蛋白原类 异常 突变 纤维蛋白原 出血 血栓形成 异常纤维蛋白原血症 

分 类 号：R5[医药卫生—内科学]