中国儿童血友病诊断现状多中心研究

Polycentric analysis of current situation of diagnosis of haemophilia in Chinese children

目的探讨儿童慢性肾脏病（CKD）2－5期的病因构成、首诊症状及临床特点。方法总结2007年9月至2016年4月于首都儿科研究所附属儿童医院住院治疗的CKD 2－5期患儿的临床资料。分析患儿的病因、临床表现及辅助检查，并比较先天遗传性泌尿系统疾病组与获得性泌尿系统疾病组患儿的临床特征。结果1.CKD 108例患儿中男66例，女42例；年龄3个月～15岁1个月；按照CKD分期，2期24例，3期26例，4期35例，5期23例。2.CKD的病因涉及28种疾病，其中先天性肾脏和泌尿系统畸形57例（占52.8%），遗传性肾脏病5例（占4.6%），其他原发性、继发性肾脏病41例（占38.0%），原因不明肾脏病5例（占4.6%）。3.有36例（33.3%）患儿以非肾脏表现为首诊症状，43例（39.8%）患儿缺乏典型症状。79例（73.1%）患儿B超提示泌尿系统结构异常，87例（80.6%）患儿尿常规异常，105例（97.2%）患儿存在尿常规或泌尿系B超检查异常。4.先天遗传性泌尿系统疾病组确诊年龄的中位数为5.89岁，明显小于获得性泌尿系统疾病组（9.20岁），差异有统计学意义（Z＝－3.434，P＝0.001）；出现矮小、低体质量的比例[66.1%（41/62例）、64.5%（40/62例）]显著高于获得性泌尿系统疾病组[43.9%（18/41例）、43.9%（18/41例）]，差异均有统计学意义（χ^2＝4.983、4.263，P＝0.026、0.039）。结论儿童CKD患儿的病因复杂，以先天性肾脏和泌尿系统畸形最为常见。CKD患儿首发症状不典型，常以肾外症状起病或缺少阳性表现。先天遗传性泌尿系统疾病患儿更易出现生长发育迟缓。尿常规和泌尿系统B超检查对CKD患儿的早期发现有重要意义。

Objective To analyze the diagnostic status of haemophilia in Chinese children in recent years,and to provide information for increasing the life quality of children with haemophilia in China. Methods The pediatric haemophilia cases registration data were collected and analyzed by using questionnaire, from January 1,2008 to March 30,2014 in 13 haemophilia treatment centers of haemophilia treatment center collaboration network of China pediatric group. These centers were from 12 provinces / municipalities. Results A total of 554 cases were collected;median age was 7.0 years old（0.1 to 17.9 years old） ;among them,481 cases（86.8% ） were hemophilia A,and 73 cases were hemophilia B（ 13.2% ） ;55 mild cases（9.9% ） ,290 moderate cases（52.4% ） ,and 209 severe cases（37.7% ） ;162 cases（29.2% ） had family history,the other 392 cases（70.8% ） had no family history. The diagnosis was made at a median age of 12.0 month - old（0 to 180.0 months） ;the diagnosis time was 0.5 months（0 to 144.0 months） after the first bleeding;diagnosis timing with short interval was in 356 cases （64.3 % ）, long interval was in 198 cases （35.7%）. The diagnostic timing was not correlated with disease severity （P = 0.812 ） or the family history （P = 0.243 ） ;but correlated with the severity of first bleeding（ P = 0. 027 ） and per capita gross domestic product （P 〈 0. 01 ） in patients＇ residence. From 1996 to 2013 ,the annual number of newly diagnosed cases was increasing year by year,with a higher proportion of short interval of diagnose timing. Conclusions With development of hemophilia work in China, the number of diagnosis of haemophilia children is increasing year by year. Moderate and severe hemorrhage are both taken seriously and diagnosed timely. But the diagnosis is delayed in some children. Chinese haemophilia work still need to be strengthen and the propaganda and diagnostic technology are to be popularized.