血友病B合并凝血因子FⅨ抑制物一例  

One case of hemophilia B combined with FⅨinhibitor

作　　者：李雪伟 王杏 张东杰 王兆钺[1] Li Xuewei;Wang Xing;Zhang Dongjie;Wang Zhaoyue(Soochow University,First Affiliated Hospital of Soochow University,Jiangsu Institute of Hematology,National Clinical Research Center for Hematologic Diseases,National Health Commission Key Laboratory of Thrombosis and Hemostasis,Collaborative Innovation Center of Hematology,Suzhou 215006,Jiangsu Province,China;Shandong First Medical University,Department of Hepatobiliary Surgery,Qingdao Municipal Hospital,Qingdao 266011,Shandong Province,China)

机构地区：[1]苏州大学,苏州大学附属第一医院,江苏省血液研究所,国家血液系统疾病临床医学研究中心,国家卫生健康委员会血栓与止血重点实验室,血液学协同创新中心,215000 [2]山东第一医科大学,青岛市市立医院肝胆外科,266011

出　　处：《国际输血及血液学杂志》2020年第1期51-56,共6页International Journal of Blood Transfusion and Hematology

基　　金：江苏省科教强卫工程-临床医学中心资助项目(YXZXA2016002)。

摘　　要：目的探讨血友病B合并凝血因子FⅨ抑制物患儿的临床特征及治疗策略。方法选择2018年2月8日,苏州大学附属第一医院收治的1例血友病B合并FⅨ抑制物患儿为研究对象。对患儿病史进行收集,并且进行凝血功能常规检查,以及血浆凝血因子、凝血因子抑制物检测等实验室检查,结合基因测序结果进行诊断。患儿接受泼尼松(15 mg/d)联合环孢素(50 mg/次×2次/d),以及泼尼松(15 mg/d)联合雷帕霉素(1.5 mg/d)方案治疗。并且根据患儿的相关实验室检查结果判断疗效。随访截至2019年9月30日。回顾性分析本例患儿临床特征、诊断、治疗经过及疗效。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本例患儿为男性,8岁。因"反复出现关节疼痛、肿胀7年"于2018年2月8日至苏州大学附属第一医院就诊。2010年5月,患儿于当地医院诊断为重型血友病B,予凝血酶原复合物,以及重组人FⅨ治疗。2012年3、4月测定FⅨ抑制物滴度分别为3.2、6.2 BU/mL。自2014年6月起,患儿关节频繁出血,疼痛程度显著加重。②患儿入院后凝血功能常规检查结果显示,活化部分凝血活酶时间(APTT)为165.4 s,凝血酶原时间(PT)为13.4 s,凝血酶时间(TT)为16.6 s,纤维蛋白原(FIB)为3.48 g/L,FⅨ∶C为0.5%,FⅧ∶C为20%。APTT纠正试验结果显示,立即及2 h后APTT分别为152.7与129.6 s。抗磷脂抗体检测结果呈阴性,狼疮抗凝物检查结果呈阴性。FⅨ抑制物滴度>10 BU/mL。FⅨ基因测序结果显示,患儿FⅨ基因2号外显子c.7993C>T(p.Arg29X)杂合突变。③该患儿被诊断为重型血友病B合并FⅨ抑制物。选择泼尼松联合环孢素方案对本例患儿进行治疗,治疗3个月后,患儿未获得改善。随后治疗方案改为泼尼松联合雷帕霉素。治疗6个月后,复查患儿FⅨ抑制物滴度下降幅度不明显,但是患儿出血频率较治疗前减少。治疗9个月后,复查患儿FⅨ抑制物滴Objective To explore the clinical characteristics and treatment of hemophilia B with coagulation factor FⅨinhibitor.Methods On February 8,2018,one case of child with hemophilia B and FⅨinhibitor who was admitted to First Affiliated Hospital of Soochow University was selected as research subject into this study.The medical history of the children was collected,coagulation function indicators,plasma coagulation factors,coagulation factor inhibitors and other laboratory tests were conducted,And the diagnosis was made based on the results of above tests and gene sequencing.The child were treated with prednisone(15 mg/d)combined with cyclosporine(50 mg/time×2 times/d)and prednisone(15 mg/d)combined with rapamycin(1.5 mg/d).Treatment efficiency was evaluated by relevant laboratory test results of the child.Follow-up was conducted until September 30,2019.Clinical characteristics,diagnosis,treatment and curative effect of this case were analyzed retrospectively.The procedure of this study was in accordance with the requirements of the revised World Medical Association Declaration of Helsinki in 2013.Results①This child was a 8 years old boy.On February 8,2018,he was admitted to First Affiliated Hospital of Soochow University due to"repeated joint pain and swelling for 7 years".The child was diagnosed as severe hemophilia B in May,2010 at local hospital and received treatment with prothrombin complex and recombinant human FⅨ.The titers of FⅨinhibitors were 3.2 and 6.2 BU/mL in March and April in 2012,respectively.The child suffered from frequent joint bleeding,and the pain was significantly worse than before.②After admission,result of routine examination of coagulation function showed activated partial thromboplastin time(APTT)was 165.4 s,prothrombin time(PT)was 13.4 s,thrombin time(TT)was 16.6 s,fibrinogen(FIB)was 3.48 g/L,FⅨ∶C was 0.5%,FⅧ∶C was 20%.The results of revealed APTT were 152.7 and 129.6 s immediately and 2 h later,respectively.Antiphospholipid antibodies and lupus anticoagulant were negati

关 键 词：血友病B 凝血因子抑制物 因子Ⅸ 出血 诊断 药物疗法 

分 类 号：R72[医药卫生—儿科]