【作者】 凌雅赟；

【导师】 廖宁；

【作者基本信息】 广西医科大学 ， 儿科学， 2012， 硕士

【摘要】 目的：研究儿童血友病临床发病及诊断年龄、临床表现及治疗等情况。方法：回顾性分析2005年1月至2011年11月广西医科大学第一附属医院住院收治的65例来自广西各地的儿童血友病患者的临床资料。结果：65例血友病患儿中血友病A共54例(83.08%)：重型13例(24.07%),中型22例(40.74%),轻型17例(31.48%),亚临床型2例(3.70%)；血友病B共11例(16.92%)：重型3例(27.27%),中型4例(36.36%),轻型3例(27.27%),亚临床型1例(9.09%)。血友病A：血友病B=4.9：1。首次出血中位数年龄为1岁,首次诊断中位数年龄为2岁2个月。65例患儿中有关节出血症状33例(50.77%),其中重型血友病13例(81.25%),中型15例(57.69%),轻型5例(25.00%)。65例中发生关节畸形17例(26.15%),其中血友病A重型7例(53.85%),中型6例(27.27%)；血友病B重型2例(66.67%),中型2例(50.00%)。重度出血共10例,均为重型及中型患儿。两个以上部位出血共27例,其中重、中型患儿占24例。亚临床型患儿均为医源性出血。65例患儿中有明确血友病家族史18例(27.69%)。62例接受过替代治疗73例次,急性出血时单纯应用凝血因子输注者29例次(39.73%)；使用凝血因子的同时使用冷沉淀和(或)新鲜冰冻血浆35例次(47.95%)；仅使用冷沉淀或新鲜冰冻血浆9例次(12.33%)。无1例进行预防性替代治疗。65例患儿均未进行血制品相关性感染性疾病的系统监测。1例14岁患儿抗-HCV抗体阳性。结论：(1)血友病儿童首次诊断年龄与首次出血年龄之间存在差距,存在诊断延迟现象；(2)出血部位、出血严重程度与血友病临床分型密切相关；(3)关节出血及关节畸形发生率较高；(4)存在替代治疗不及时、使用因子制剂替代治疗率低的状况；(5)本组患儿均未进行血制品相关性感染性疾病的系统监测。更多还原

【Abstract】 Objective:This research is carried out to analyze the clinical data of pediatric haemophilic paitents and to study the cause, the symptoms clinical presentation, the diagnosis, and the treatment of haemophilia.Method:Retrospective studies and analysis are carried out about the clinical datas of65pediatric haemophilic patients hospitalized in NO.l Affiliated Hospital of Guangxi Medicine University from January,2005to November,2011.Result:Among the65children haemophilic paitents,54children suffered from haemophilia A, comprising83.08%of cases, with13(24.07%) severe cases,22(40.74%) moderate cases,17(31.48%) mild cases and2(3.70%) subclinical cases;11children suffered from haemophilia B, comprising16.92%of cases, with3(27.27%) severe cases,4(36.36%) moderate cases,3(27.27%) mild cases and1(9.09%) subclinical case. The ratio of haemophilia A cases and haemophilia B cases was4.9to1. The median age of initial bleeding was1.0year old, and the age of initial diagnosis was2.2years old. Among the65patients,33(50.77%) children suffered from joint bleeding, there were13 severe,15moderate and5mild cases respective;17(26.15%) children suffered from joint deformity, among them7(53.85%) were cases of severe haemophilia A,6(27.27%) were cases of moderate haemophilia A,2(66.67%) were cases of severe haemophilia B,2(50.00%) were cases of moderate haemophilia B. Severe bleeding occurred in10children, all being severe and moderate cases.27children,24of whom were severe or moderate cases, suffered from bleeding in more than2positions. All the subclinical cases were all iatrogenic.18(27.69%) among65patients were linked to explicit family history of haemophilia.62children received replacement therapy,29(39.73%) children received clotting factor infusions only when acute bleeding occurred;35(47.95%) children received infusions of Cryoprecipitate and/or fresh frozen plasma besides clotting factor infusions;9(12.33%) children received infusions of Cryoprecipitate and/or fresh frozen plasma only. None of the patients received any prophylactic replacement therapy, nor did they receive any systematic test of infectious diseases related to blood products. There was a14-year old child with positive HCV antibody.Conclusion:(1) There are gaps between the outbreak age of the disease and the age of their initial diagnosis, which indicates delayed diagnosis;(2) Bleeding position and severity of bleeding are closely related to clinical form and classification of haemophilia;(3) The incidence of joint bleeding and joint deformity is high;(4) Many patients can not receive timely treatment, and clotting factor products can not be widely used in replacement therapy;(5) None of the children has received any systematic test of infectious diseases related to blood products.更多还原