68例遗传性血小板功能障碍性疾病的临床研究

The clinical research of inherited platelet function disorders in 68 cases

目的分析遗传性血小板功能障碍临床特点,为遗传性血小板功能障碍的诊断、治疗、预后判断提供参考依据。方法回顾性分析68例遗传性血小板功能障碍患儿的临床资料,分析患儿的一般情况、首次出血诱因、出血表现、实验室检查等。以儿童贫血标准判断贫血程度,分析血块退缩试验与出血部位、贫血程度的相关性。按照国际血栓与止血协会(ISTH)2010年推荐的出血评分工具(以0~2分为正常,≥3分为异常出血)分析异常出血与患儿性别、贫血发病年龄、出血诱因及血块退缩试验关系。结果遗传性血小板功能障碍疾病以男性较多,并多于3岁前发病;出血以自发性皮肤紫癜常见。贫血严重程度及出血部位数量与血块退缩试验结果是否异常均无关(P>0.05)。单因素Logistic回归分析提示贫血程度与患儿ISTH出血评分工具出血评分显著相关。随访13例患儿中1例因肺出血死亡,12例患儿日常生活质量良好。结论血小板功能障碍疾病患儿以男性较多、多有阳性家族史;贫血程度与出血评分独立相关;随年龄增长出血倾向有减轻的趋势,但仍有重要脏器出血致死的风险。

Objective To analyze the clinical characteristics of inherited platelet function disorders （IPFD） and try to provide some useful predictive information for the diagnosis,treatment and prognosis of IPFD.Methods The clinical data of 68 cases diagnosed as IPFD were retrospectively collected.General situations,reason of first bleeding,haemorrhagic manifestations and laboratory examination were analyzed.In addition,according to the anemia criteria of children,the correlation of clot retraction test,bleeding point and degree of anemia were also analyzed.Results Of the enrolled cases,males accounted more than females and manifestation often emerged before three years old.Spontaneous skin purpura was the most common clinical symptom.The no severity of anemia and the number of bleeding sites were not correlated with the result of clot retraction test（P〉0.05）.In the univariate Logistic regression analysis,significant correlation between the degree of anemia and ISTH score was found.One patient died from pulmonary hemorrhage,and 12 patients were alive with good daily life status in the 13 followed-up cases.Conclusion IPFD children are most males,who are probably have positive family history of IPFD.The degree of anemia is independently associated with ISTH score.The tendency of bleeding declines with age,but the risk of life-threaten bleeding from vital organs should be addressed.