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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 features of hereditary platelet dysfunction and provide reference for the diagnosis, treatment and prognosis of hereditary platelet dysfunction. Methods A retrospective analysis of 68 cases of hereditary platelet dysfunction in children with clinical data, analysis of the general situation of children, the first cause of bleeding, bleeding performance, laboratory tests. The level of anemia was judged according to the standard of children’s anemia. The correlation between the blood clot regression test and bleeding site and the degree of anemia was analyzed. In accordance with the International Society of Thrombosis and Hemostasis (ISTH) 2010 Bleeding Scoring Tool (0 to 2 divided into normal, ≥ 3 divided into abnormal bleeding) analysis of abnormal bleeding and the patient’s gender, age of onset of anemia, bleeding and clot retraction test relationship. Results Hereditary platelet disorders were more common in males than those older than 3 years of age. Bleeding was common in idiopathic cutaneous purpura. The severity of anemia and the number of bleeding sites were not related to abnormal blood clot regression test (P> 0.05). Univariate logistic regression analysis showed that the degree of anemia was significantly correlated with the ISTH hemorrhagic score bleeding score in children. Follow-up of 13 cases of children died of pulmonary hemorrhage, 12 children with good quality of daily life. Conclusions There are more males and more family members with positive family history of platelet dysfunction disease. The degree of anemia is independently related to the bleeding score. The tendency of hemorrhage tends to be alleviated with age, but there is still a risk of death from major organ hemorrhage.