儿童血友病病人临床资料及现状分析

目的通过对儿童血友病病人临床资料的总结，分析中国儿童血友病病人现状，为开展进一步诊治、综合关怀工作提供依据。方法总结分析首都医科大学附属北京儿童医院血液病中心血友病工作组自2003年1月到2007年5月4年余收集的145份病例资料：结果（1）一般情况：病人来自19个省市自治区，年龄6月～18岁，中位年龄6．9岁，各年龄组均占1／4，血友病A：B=5．17：1，中度占43．4％，无家族病史占65．5％。（2）临床情况：①首次出血：出生当天～14岁，中位年龄12月。轻、中度常有诱因：多为医源性穿刺、外伤，年龄多〉1岁；重度以无诱因自发皮肤黏膜出血、〈1岁多见。②关市出血58．6％，其中87％已存在靶关节／慢性血友病性滑膜炎：中度、轻度分别为54．8％、21．2％，疾病程度重，病程长，发生率增加。③颅内出血13．1％：其中15．8％死亡和／或放弃，26．3％遗留癫痫后遗症，10．6％接受手术。总死亡率2．76％。（3）治疗情况：①急性出血时应用因子替代36．8％，因子供应不充足45．3％，出血时没有替代治疗17．9％。②没有常规监测并发症。（4）牛活质量：①心理评估：自身评价不满占47．8％，情感不满占95．6％。②参与社会活动、自理能力：6～12岁25．2％处于基本失学状态，12～18岁为50％。在校／幼儿园66．7％不参与活动。日常生活72．7％不能完成。③70．3％家庭疾病负担明显严重，与疾病程度和年龄无关。结论中国血友病儿童（1）发病情况同其他报道，无家族史者多。（2）首次出血各年龄组均有发生，需注意外伤后非正常及自发出血，及早诊断避免延误。（3）整体致残率离：严重关节并变多；硕内出血没有得到及时治疗，半数以上存在严重并发症。（4）生活质量差：多数孩子为避免出血而选择不活动，被迫选择回避?

Evaluation Clinical data and Current Condition of Children Hemophilic Patients in China

Objective To describe clinical data of children hemophilic patients from China seen at our hospital and to describe their clinical conditions with an aim to provide the basic data for further studies and for the development hemophilia comprehensive care in China. Methods We retrospectively analyzed our patients 145 cases seen between 2003-2007. Results （ 1 ） There were 147 patients came from 19 provinces of China （the majority from northeastern China） with a median age of 6.9 year （range 6m to 18y）. Majority are hemophilia A （A： B = 5.17：1 ） with 29.7% severe disease and 43.4% moderate. Family history was negative in 65.5%. （2）Clinical information：①First bleed episode overall at median age of 12 months （range 1 d to 14y）. Majority of the first bleeding episodes occurred after 1 year age in mild/moderate patients with procedures and trauma as the precipitation causes. Patients with severe disease had spontaneous bleeding with the majority having the first bleed episode before 1 year age. ② Joint bleeds occurred in 58.6% of all patients （including 54.8% moderate patients and 21.2% mild patients） with 87% of whom having severe joint damage. ③ ICH occurs in 13.1% patients with a mortality rate of 15.8% , CNS sequelae in 26.3%. Operative intervention was performed in 10.6%. Severe bleed episodes also occurred, among them 60% of patients were moderate. The overall mortality was 2.76%. （3） Treatment of bleed episode： 36.8% received concen-trates, 45.3% received fresh frozen plasma/cryoprecipitate or suboptimal doses of concentrate, and 17.9% received no replacement therapy. Complications of replacement therapy ： occurred rarely, but could be related to the lack of monitoring. （4） Quality of life ： ① Psychologic development ： was self rated as unsatisfactory in 47.8% and emotionally rated unsatisfactory in 95.6%. ② Activities and self-care： poor to no attendance in about 25.2% of those in 6-12 years age group, and 50% in the 12 to 18 years age group. About 66.