甘肃省国家血友病病例信息管理中心345例血友病患儿的临床资料分析

Analysis of clinical data of 345 children with hemophilia in Gansu National Hemophilia Case Information Management Center

目的通过对甘肃省国家血友病病例信息管理中心登记的血友病患儿数据资料汇总分析,了解甘肃省血友病患儿的诊疗现状,为开展边远地区儿童血友病的规范化诊疗提供帮助。方法收集2010年1月—2020年12月期间甘肃省国家血友病病例信息管理中心登记的345例血友病患儿的临床资料并进行回顾性分析。结果1.血友病患儿共345例(男344例,女1例)。其中,A型316例,轻型、中间型、重型分别占17.7%、56.5%、35.8%。B型29例,轻型、中间型、重型分别占24.1%、48.3%、27.6%。仅6.7%的患儿检测过抑制物,阳性率为26.1%。有血友病家族史者占31.9%。2.首次出血中位年龄2.00岁;确诊中位年龄3.00岁;首次替代治疗中位年龄5.00岁;平均延迟诊断年龄1.19±2.36岁。出血部位主要为皮肤黏膜、关节、肌肉、牙龈、鼻。关节出血214例(62.0%),部位以膝关节最多。关节畸形总发生率为41.7%,部位以膝关节最多。3.预防治疗的患儿仅占6.7%,绝大多数为按需治疗。结论甘肃省血友病患儿确诊病例以中间型与重型、农村患儿居多,存在诊断延迟和治疗不规范不充分,导致关节出血率与畸形率均高,严重影响了患儿的生活质量,亟待改善。

Objective To summarize and analyze the data of hemophilia children registered by the National Hemophilia Case Information Management Center of Gansu Province,to understand the current diagnosis and treatment situation of hemophilia children in Gansu Province,so as to provide help for the standardized diagnosis and treatment of hemophilia children in remote areas.Methods Clinical data of 345 children with hemophilia registered by the National Hemophilia Case Information Management Center of Gansu Province from January 2010 to December 2020 were collected and analyzed retrospectively.Results 1.There were 345 children with hemophilia(344 males and 1 female).Among them,316 cases of type A,light,intermediate and heavy accounted for 17.7%,56.5%and 35.8%respectively.There were 29 cases of type B,light,intermediate and heavy accounted for 24.1%,48.3%and 27.6%respectively.Only 6.7%of children had detected inhibitors,and the positive rate was 26.1%.About 31.9%of patients had a family history of hemophilia.2.The median age of first bleeding was 2.00 years old;the median age of diagnosis was 3.00 years old;the median age of first replacement therapy was 5.00 years old;the mean age of delayed diagnosis was 1.19±2.36 years old.The bleeding sites were mainly skin and mucous membranes,joints,muscles,gums,and nose.There were 214 cases(62.0%)of joint hemorrhage,most of which were in the knee joint.The total incidence of joint deformity was 41.7%,and the most common site was the knee joint.3.Only 6.7%of children were treated with preventive treatment,and mostly treated on demand.Conclusions Most of the confirmed cases of hemophilia in Gansu Province are intermediate type,severe type and rural children,with delayed diagnosis and inadequate treatment,resulting in high joint bleeding rate and deformity rate;which has seriously affected the quality of life of children and needs to be improved.