中国儿童血友病诊断现状——单中心13年417例儿童血友病数据分析

CurrentSituation of Diagnosis for Haemophilia in Chinese Children——Single Center Analysis of 417 Haemophiliac Cases in Thirteen Yers

目的收集和分析我血友病中心近年来有关儿童血友病诊断的数据,了解我国儿童血友病诊断的进步与不足,为进一步制定符合中国国情的儿童血友病关怀策略提供依据。方法收集我院血友病中心自2007年1月1日至2013年5月30日注册登记的所有儿童血友病病例有关诊断的数据并进行统计分析。结果共收集到417例病例资料,分别来自全国24个省、市、自治区;中位年龄为2.5岁（0.1岁至13.1岁）;血友病A333例（79.9%）,血友病B84例（20.1%）;轻型33例（7.9%）,中间型204例（48.9%）,重型180例（43.2%）;仅104例（24.9%）有血友病家族史。首次出血情况：首次出血中位月龄为10.0个月（0.0～89.0月）：轻度出血181例（43.4%）,中度197例（47.2%）,重度39例（9.4%）;首次出血原因中,医源性出血27例（6.5%）,其中12名患儿为通过手术前检查筛查发现,5例（5/27,18.5%）患儿有血友病家族史,其中分娩时出血3例（3/27,11.1%）。获得诊断情况：平均诊断月龄为22.5±14.8月（0.0～178.0月）;获得诊断距离首次出血的时间平均为9.10±0.82个月（0.0～100.0月）;获得诊断时机：近期（首次出血后≤1月）210例（50.4%）,中期（首次出血后＞1月～≤6月）68例（16.3%）,远期（首次出血后≥6月）139例（33.3%）;获得诊断时机相关因素分析：与有无家族史及患儿所处地区无关（P值分别为0.71、0.281）,而与首次出血程度相关（P=0.012）。首次出血程度越重的患儿在近期获得诊断比例越高（近期诊断率在首次轻度出血者为46.5%,中度出血者为51.8%,62.5%）。但首次重度出血者与中度出血者间无差异（P=0.463）。诊断进步与不足：近12年新诊断病人数量呈升高趋势,2013年预计诊断数（84例）是2000年（3例）的28倍;近三年来,近期、中期、远期获得诊断的构成比例存在差异（χ2=14.1,P=0.007）,远期诊断率呈逐年升高趋势,分别为44.8%、50.8%、57.1%。结论我国血友病诊治事业进步显著,儿童血友病患者就诊、获得诊断人数在近年有迅速增长;首次出血表现越重的患儿,获得诊断的时机越早;但是诊断不及时的现象仍较为普遍,各级医院对血友病的早期诊断能力尚待提高。

Objective Collect and analyze our hemophilia center clinical data on diagnosis of hemophiliain recent years,to understand improvement and deficiency of ability of hemophilia diagnosis in China,in order to further develop children hemophilia care strategy which accords with the situation of China. Methods Collected and analyzed registration data on diagnosis of hemophilia children in our hemophilia center from January 1,2007 to 2007 on May 30. Results Data of 417 cases were collected,respectively from 24 provinces or autonomous regions; The median age of 2. 5 years（ aged 0. 1 to 13. 1）; Hemophilia A were 333 cases（ 79.9%）,hemophilia B were 84 cases（ 20. 1%）; 33 cases for mild（ 7. 9%）,204 cases for moderate（ 48.9%） and 180 cases for severe cases（ 43. 2%）; 104 children had hemophilia family history. The first bleeding situation： first hemorrhage occurred at the median of 10. 0 months（ 0. 0 ～ 89. 0 months） ： mild hemorrhage in 181 cases（ 43. 4%）,moderate in 197 cases（ 47. 2%）,severe in 39 cases（ 9. 4%）. Reason of firstbleed,iatrogenic hemorrhage of 27 cases（ 6. 5%）,twelve of them were diagnosed through screening test before operation,and 5 patients（ 5 /27,18. 5%） had family history. Bleeding during childbirth were 3 cases,11. 1%（ 3/27）. Diagnostic condition： average diagnostic timing was 22. 5 ± 14. 8 months after birth（ 0. 0 ～ 178. 0months）; average interval between first bleed and diagnosis was 9. 10 ± 0. 82 months（ 0. 0 ～ 100. 0 months）;diagnostic time： 210 cases（ 50. 4%） of short-interval（ within one month after first bleed）,68（ 16. 3%） of mediate-interval（ 1 ～ 6 months after first bleed）,and 139（ 33. 3%） of long-interval（ more than 6 months after bleed）; diagnostic timing related factor： no difference was found in children with and without family history（ P= 0. 71）,neither in children from different areas（ P = 0. 281）; association was found with severity of first hemorrhage（ P = 0. 012）,more sever hemorrhage at first time with higher rate of short-interval diagnostic timing.recent diagnosis rate is higher. But for the first time,severe bleeding and no difference between moderate bleeding（ P = 0. 463）; no difference between severe and moderate severity of first hemorrhage children. Diagnostic improvement and deficiency： In recent 12 years,the number of new diagnosed cases has a trend of increase. This number in 2013 is expected to be 84 which is nearly 28 times of that in 2000. The percentage of short,mediate and long interval had difference in recent 3 years（ χ2= 14. 1,P = 0. 007）; the long-interval percentage increased in recent 3 years,they were 44. 8%,50. 8% and 57. 1% respectively. Conclusion With development of hemophilia work in China,the number of diagnosis of hemophilia children increases year by year; moderate and severe hemorrhage are both taken seriously and diagnosed timely. But there is still a part of children have diagnosis delayed,which is the cause of poor prognosis. Chinese hemophilia work still need to strengthen the propaganda and popularization of diagnosis and treatment technology.