摘要
目的调查遗尿症儿童和青少年亲属遗尿症的发生率和遗传模式。方法在河南省10 088例儿童和青少年（年龄5～18岁）进行的遗尿症流行病学调查中,对发现的411例遗尿症患者的遗传资料进行分析。主要调查家族成员包括先证者的一级亲属（同胞兄弟姐妹、父母）和二级亲属[（外）祖父母]。遗尿症定义为5岁以上儿童和青少年在过去4周至少1次晚上发生尿床;严重遗尿症定义为过去4周中平均1周至少2次发生尿床。被调查遗尿症儿童家族成员中出现5岁后仍遗尿症者为家族史阳性。结果411例遗尿症患者中,94例（22．87％）存在遗尿症家族史阳性。其中父亲占48．94％（46／94）,母亲占8．51％（8／94）,父母共同占6．38％（6／94）,同胞兄弟占6．38％（6／94）,（外）祖父母占29．79％（28／94）。60个（14．60％）家系符合常染色体显性遗传,其中13个（3．16％）为高外显率,47个（11．44％）为低外显率;6个（1．46％）符合常染色体隐性遗传;345个（83．94％）遗尿症家系为散发。所有遗尿症先证者中,男235例,女176例,男：女为1．3：1．0,排除性染色体遗传。遗尿症家族史阳性遗尿症患者的年龄、白天排尿异常和严重性遗尿症发生率显著高于家族史阴性遗尿症患者,而性别、居住环境和觉醒障碍发生率在二者的差异无统计学意义。结论部分遗尿症有家族遗传倾向。家族史阳性者多表现为严重性遗尿症和伴随有白天排尿异常症状。
Objective To assess the incidence of nocturnal enuresis （NE） among relatives of Chinese children and its inheritance pattern. Methods From July 2003 to June 2004, an epidemiological survey on NE children was carried out in Henan Province, and 411 children aged from 5 to 18 （235 boys and 176 girls） with NE were identified. A detailed family history was recorded in each case in order to determine the presence of familial NE. Results A positive family history was found in 94 of 411 （22.87%）cases with NE, including 48.94% of fathers, 8.51% of mothers, 6.38% of both parents, 6.38% of the siblings and 29.79% of grandfathers or/and grandmothers. Among the 411 cases, the ratio of males to females was 1. 3 ： 1. 0 excluding sex related inheritance. The majority （83.94%） showed sporadic cases, and autosomal dominant inheritance was in 14. 60%, including 3.16% with a high penetrance and 11.44% with a low penetrance. Autosomal recessive inheritance was consistent in 1.46 % of families. There was significant difference in the age group, associated claysymptom and marked NE between children with and without positive family history. There was not significant difference in sex, inhabitation and sleep function after bed-wetting. Conclusions NE has a significant family tendency. Those with positive family history often manifest a more serious NE, and day time symptoms.
出处
《中华泌尿外科杂志》
CAS
CSCD
北大核心
2007年第5期316-318,共3页
Chinese Journal of Urology
基金
国家自然科学基金资助项目（30571931）
河南省医学科技创新人才工程、河南省高等学校创新人才培养工程（2002-2007）
关键词
遗尿症
流行病学
遗传
Nocturnal enuresis
Epidemiology
Inheritance
作者简介
通信作者：文建国，Email：jgwen@zzu．edu．cn
