1例新生儿A型血友病临床分析并文献复习  

Clinical Analysis and Literature Review of 1 Case of Neonatal Hemophilia Type A

作　　者：张佩[1] 王嘉迪 王慧[1] Zhang Pei;Wang Jiadi;Wang Hui(Department of Neonatology,Hubei Provincial Maternal and Child Health Hospital,Wuhan,Hubei,430070,China)

机构地区：[1]湖北省妇幼保健院新生儿科,湖北武汉430070

出　　处：《黑龙江医学》2023年第19期2363-2365,共3页Heilongjiang Medical Journal

摘　　要：目的:了解新生儿A型血友病的临床特点、诊断、治疗及预后。方法:选取2020年11月湖北省妇幼保健院收治的1例新生儿A型血友病病历资料进行回顾性分析。结果:患儿为男性,入院日龄2 h,因胎龄38周,出生体重2.14 kg入院,入院后6 h皮肤出现出血点、穿刺部位不易止血,入院12 h后静脉穿刺处出现血肿。实验室检查提示凝血活酶时间(APTT)显著延长,凝血因子Ⅷ活性严重下降,基因检测有致病性基因F8,诊断新生儿为A型血友病。给予输注血浆、冷沉淀、凝血因子Ⅷ等治疗2周,病情好转出院。结论:在排除其他出血性疾病后,应怀疑有新生儿出血和凝血障碍证据的个体患有血友病。凝血因子活性水平和基因检测可以明确诊断,对疾病的早期诊断和治疗提供了良好的预后。Objective:To understand the clinical features,diagnosis,treatment and prognosis of neonatal hemophilia type A.Methods:The data of a case of neonatal hemophilia A admitted to the hospital in November 2020 was selected for retrospective analysis.Results:One child was a male,20 min of age,admitted for gestational age of 38 weeks and birth weight of 2.14 kg.Bleeding spots appeared on the skin 6 h after admission,the puncture site was not easily hemostatic,and a hematoma appeared at the venipuncture site 12 h after admission.Laboratory tests revealed a significant prolongation of the prothrombin time(APTT),a severe decrease in coagulation factorⅧactivity,and genetic testing for the pathogenic gene F8,diagnosing neonatal hemophilia A.He was treated with plasma transfusion,cold precipitation,and coagulation factorⅧfor 2 weeks,and was discharged in good con⁃dition.Conclusion:Individuals with evidence of neonatal bleeding and coagulation disorders should be suspected of having hemo⁃philia after other bleeding disorders have been excluded.Coagulation factor activity levels and genetic testing allow for a definitive diagnosis and provide a good prognosis for early diagnosis and treatment of the disease.

关 键 词：A型血友病 凝血因子Ⅷ 新生儿 凝血因子Ⅸ 

分 类 号：R554.1[医药卫生—血液循环系统疾病]