中重型新生儿血友病11例临床分析  

Analysis of 11 cases of moderate or severe neonatal hemophilia

作　　者：唐小晶 黄文娣 刘建平[1] 杨雪峰[1] 李思袖[1] 王金会[1] 王义[1] Tang Xiaojing;Huang Wendi;Liu Jianping;Yang Xuefeng;Li Sixiu;Wang Jinhui;Wang Yi(Department of Neonatal Intensive Care Unit,Xi′an Children′s Hospital,Xi′an 710003,China)

机构地区：[1]西安市儿童医院NICU,710003

出　　处：《中国小儿急救医学》2020年第8期604-608,共5页Chinese Pediatric Emergency Medicine

摘　　要：目的分析中重型新生儿血友病的临床特点,提高对中重型新生儿血友病的认识。方法对2012年1月至2019年6月我院NICU收治的11例中重型新生儿血友病的病例资料进行回顾性分析,分析11例患儿的临床特征,实验室检查结果,治疗和预后。结果11例患儿均为男性,均为甲型血友病。7例并发颅内出血,其中1例颅内出血较重,并发脑疝。其余颅内出血患儿仅2例有神经系统异常。1例右侧肾上腺血肿,1例腹膜后血肿。9例有黄疸表现,7例患儿黄疸出现均在生后2 d内,最早出现在生后12 h,总胆红素最高388μmol/L。11例活化部分凝血活酶时间(APTT)明显延长,凝血因子Ⅷ明显缺乏,8例中间型,3例重型。4例行基因检测。3例患儿输注新鲜冰冻血浆及冷沉淀,其余患儿输注重组凝血因子Ⅷ制剂。经治疗10例患儿病情好转后出院,1例患儿家长放弃治疗后死亡。结论中重型新生儿血友病常并发颅内、腹腔等隐匿部位出血,常伴发高胆红素血症,应及时行影像学检查排除隐匿部位出血,尽早行凝血功能及凝血因子活性检测,并按照不同出血部位不同预期因子水平计算予以补充凝血因子。Objective To analyze the clinical features of moderate or severe neonatal hemophilia,and improve the understanding of this disease.Methods Eleven cases of neonates with moderate or severe hemophilia admitted to our NICU from January 2012 to June 2019 were enrolled.The clinical features,laboratory data,treatments and prognosis of these 11 neonates were retrospectively analyzed.Results All the neonates were male,and were diagnosed hemophilia A.Seven neonates presented with intracranial hemorrhage including one case complicated with cerebral hernia.Only two of these neonates with intracranial hemorrhage had neurological abnormalities.One case presented with right adrenal hematoma,and one case presented with retroperitoneal hematoma.Jaundice was observed in nine cases,and seven cases,jaundice appeared within two days after birth,whose earliest was 12 hours after birth,and the highest total bilirubin was 388μmol/L.All cases had prolonged activated partial thromboplastin time.All neonates had decreased activity of coagulation factorⅧincluding eight moderate and three severe neonatal hemophilia A.Four cases had genetic testing.Three cases infused with fresh frozen plasma and cryoprecipitate and the rest treated with coagulation factorⅧinfusion.Ten cases improved after treatment,and one case abandoned treatment.Conclusion Moderate or severe hemophilia is often complicated with intracranial hemorrhage or abdominal hemorrhage,often accompanied with hyperbilirubinemia.Imaging examination should be performed to exclude occult bleeding,and coagulation function and coagulation factor activity should be detected as soon as possible.Blood coagulation factors are infused according to the different expected factors of different bleeding sites.

关 键 词：中重型血友病 新生儿 颅内出血 高胆红素血症 

分 类 号：R722.1[医药卫生—儿科]