遗传性血小板功能障碍疾病64例临床分析

发布时间：2018-10-05 13:18

【摘要】：目的通过回顾性分析我院64例遗传性血小板功能障碍疾病住院患儿的病例资料及其进行问卷调查,分析总结遗传性血小板功能障碍疾病的临床特征和实验室资料,了解遗传性血小板功能障碍疾病患儿的日常生活质量,旨在为遗传性血小板功能障碍疾病尤其血小板无力症的规范化诊断、治疗提供参考依据。方法1.收集1996年4月-2014年9月重庆医科大学附属儿童医院收治的64例临床诊断遗传性血小板功能障碍疾病患儿的临床资料,部分病例以电话回访形式获得出血性疾病日常生活评价资料(北京儿童医院版)。2.采用SPSS21.0统计软件整理分析数据,以P0.05为差异有统计学意义。结果1.64例遗传性血小板功能障碍疾病患儿,男女比例约为1.21：1。2.64例患儿发病年龄1小时-14岁3月,中位年龄：17月,发病年龄1岁及1岁以下有29例(45.3%),3岁及3岁以下有44例(64%)。其中有2例生后即诊断。3.64例遗传性血小板功能障碍疾病患儿中,有12例父亲和(或)母亲行血小板聚集功能检查,有8例父亲和(或)母亲血小板最大聚集率降低,占66.7%。4.64例遗传性血小板功能障碍疾病患儿中无明显诱因出血最常见,有44例,占68.8%,其次分别是上呼吸道感染(10.9%)、外伤(9.4%)后出血较多见。5.出血表现中皮肤紫癜最常见,占64.1%,其次鼻衄、消化道出血、牙龈出血、创伤后出血难止,分别占54.7%、17.2%、14.1%、14.1%。有2例青春期女性患儿,均有月经过多表现。6.64例患儿中27例同时行血块退缩试验,有21例(77.8%)血块退缩试验异常。将27例患儿根据初诊时出血部位多少分为两个或以上及一个或以下两组,两组之间血块退缩试验异常率无显著性差异(P0.05)。7.64例遗传性血小板功能障碍疾病根据贫血程度分为正常、轻度、中度、重度、极重度,无贫血和轻度贫血者占53.1%,中度、重度贫血者占46.9%,无极重度贫血者。8.将血块退缩试验分为正常组及异常组,两组之间贫血严重程度无显著性差异(P0.05)。9.出血部位的多少与血小板最大聚集率无明显差异(P0.05)。10.比较婴儿期、幼儿期、学龄前期、学龄期不同年龄组患儿血小板最大聚集率无明显差异(P0.05)。11.对其中8例患儿以电话回访形式完成了出血性疾病日常生活评价资料(北京儿童医院版)。随访时8岁及以上患儿有5例,均未再出血,达到8分满分。2例随访时7岁患儿出血倾向较前减轻,达到7分。1例随访时1岁6月出血倾向较初诊时减轻。有1例死亡病例,因肺出血致失血性休克死亡。12.64例遗传性血小板功能障碍疾病患儿中,所有病例通过局部止血、输血支持及对症处理可以达到防止出血的目的。30例中度、重度贫血患儿中,有24例输注红细胞悬液纠正贫血,占80%,有8例贫血纠正困难者同时输注机采血小板止血治疗,占26.7%。本组资料中,有2例表现为月经过多的青春期女性患儿均予以口服雌激素治疗,疗效较好。13.64例遗传性血小板功能障碍疾病患儿按照国际止血与血栓协会2010年推荐的出血评分标准,有34例为异常出血,占53.1%。对全部64例遗传性血小板功能障碍疾病患儿发生异常出血的单因素分析,发病年龄、是否贫血与出血评分相关(P0.05),Logistic回归分析结果可见贫血与出血评分显著相关(B值3.47,OR值32.024,P=0.000),而性别、年龄、有无出血诱因、血块收缩试验是否异常对出血评分均无影响。结论1.IPFD患儿以男性较多。发病年龄婴幼儿占多数。父母行血小板聚集试验中超过一半有阳性家族史。2.遗传性血小板功能障碍常无明显诱因发生出血,其次是上呼吸道感染及外伤后诱发。出血症状中皮肤紫癜最常见。青春期女性患儿,常有月经过多表现。3.血块退缩试验是否异常及血小板最大聚集率不能衡量出血严重程度。无贫血和轻度贫血者占多数,严重出血导致重度贫血少见。起病年龄的早晚与血小板最大聚集率无关。4.贫血程度与出血评分明显并独立相关,而性别、年龄、有无出血诱因、血块收缩试验是否异常对出血评分均无影响。5.同一患儿随年龄增长其出血倾向有减轻的趋势,但仍有重要脏器出血致死的风险。
[Abstract]:Objective To retrospectively analyze the clinical characteristics and laboratory data of 64 cases of hereditary platelet dysfunction disease in our hospital, and to analyze the clinical characteristics and laboratory data of hereditary platelet dysfunction disease. Objective To study the quality of daily life in children with inherited platelet dysfunction and to provide a reference basis for the standardized diagnosis and treatment of hereditary thrombocytopenia. Method 1. Collect the clinical data of 64 cases of hereditary platelet dysfunction disease from April 1996 to September 2014 in the Affiliated Hospital of Chongqing Medical University, some cases receive the daily life evaluation data of hemorrhagic disease (Beijing Children's Hospital Edition) in the form of telephone return visit (Beijing Children's Hospital Edition). SPSS 10.0 was used to analyze the data, and the difference was statistically significant with P0.05. Results 1. 64 cases of hereditary platelet dysfunction disease had an age of 1. 21: 1. 64 children were aged 1 hour to 14 years old, and the median age was 17 months, 29 cases (45.3%) were found under the age of 1 year and 1 year old, 44 cases (64%) were under the age of 3 years and under the age of 3 years. Among them, 2 of them were diagnosed. Among them, 12 fathers and/ or mother had platelet aggregation function examination in 12 cases of hereditary platelet dysfunction disease, and 8 cases of father and/ or mother's platelet maximum aggregation rate decreased. Of the 64 patients with hereditary thrombocytopenia, there were 44 cases (68.8%), followed by upper respiratory tract infection (10. 9%) and trauma (94.4%). The most common cause of skin purpura in bleeding was 64.1%, followed by nosebleed, gastrointestinal bleeding, gingival bleeding, and post-traumatic hemorrhage, accounting for 54. 7%, 17. 2%, 14.1%, 14.1%, respectively. There were 2 children with adolescent girls, and 27 of 64 children had a blood clot withdrawal test at the same time. There were 21 cases (77.8%) of the abnormal blood clot withdrawal test. There was no significant difference between the two groups (P0.05). 64 cases of hereditary thrombocytopenia were divided into normal, mild, moderate, severe and extremely severe according to the degree of anemia. No anemia and mild anemia accounted for 53. 1%, moderate and severe anemia accounted for 46. 9% and non-polar severe anemia. 8. There was no significant difference between the two groups (P0.05). There was no significant difference between the number of bleeding sites and the maximum platelet aggregation rate (P0.05). There was no significant difference in platelet maximum aggregation rate among infants in infancy, early childhood, pre-school period and age group (P0.05). The daily life evaluation data of hemorrhagic disease (Beijing Children's Hospital) was completed in 8 children with telephone return visit. In the follow-up, there were 5 cases with no rebleeding after 8 years of follow-up and 8 full marks. The bleeding tendency of 7-year-old children at follow-up was lower than before, reaching 7 points. There were 1 case of death, hemorrhagic shock death due to pulmonary hemorrhage. 12. 64 cases of hereditary platelet dysfunction disease, all cases were treated by local hemostasis, transfusion support and symptomatic treatment to prevent bleeding. In 30 patients with moderate and severe anemia, There were 24 cases of red blood cell suspension in order to correct anemia, accounting for 80%, and 8 patients with anemia were treated with platelet hemostasis at the same time, accounting for 26. 7%. In this group, 2 children with hereditary thrombocytopenia were treated by oral estrogen, and the curative effect was better. In 64 cases of hereditary platelet dysfunction, 34 cases were abnormal bleeding according to the standard of bleeding recommended by the International Hemostatic and Thrombosis Association in 2010. 53. 1%. A single factor analysis of abnormal bleeding occurred in all 64 patients with inherited platelet dysfunction, the age of onset, whether anemia was associated with bleeding score (P0.05), and the results of logistic regression analysis showed that anemia was significantly correlated with bleeding score (B value 3.47, OR value 32.24, P = 0. 000), while sex, Age, presence or absence of bleeding cause, blood clot retraction test had no effect on bleeding score. Conclusion 1. IPFD children are more male. There are a majority of infants in the age of onset. More than half of the parent's platelet aggregation test had a positive family history. hereditary platelet dysfunction often has no obvious cause of hemorrhage, followed by upper respiratory tract infection and post-traumatic induction. Henoch-Schonlein purpura is most common in hemorrhagic symptoms. in adolescent girls, there are often too many manifestations. The abnormality of the blood clot retraction test and the maximum platelet aggregation rate do not measure the severity of the bleeding. No anemia and mild anemia are in the majority, and severe bleeding is a rare cause of severe anemia. The time of onset of onset was not related to the maximum platelet aggregation rate. There was no significant correlation between anemia degree and bleeding score, but sex, age, presence or absence of bleeding cause, and abnormal blood clot shrinkage test had no effect on bleeding score. 5. There is a tendency to alleviate the bleeding tendency of the same child with age, but there is still a risk of death of important organ hemorrhage.
【学位授予单位】：重庆医科大学
【学位级别】：硕士
【学位授予年份】：2015
【分类号】：R725.4

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