Wang Qing Wei, Wen Jian Guo, Zhang Rui Li, Yang He Ying, Su Jing, Liu Kui, Zhu Qing Hua, Zhang Peng
Department of Pediatric Surgery, Pediatric Urodynamic Centre of the First Affiliated Hospital of Zhengzhou University, Zhengzhou City, Zhengzhou, China.
Pediatr Int. 2007 Oct;49(5):618-22. doi: 10.1111/j.1442-200X.2007.02406.x.
The aim of the present paper was to determine the incidence of primary nocturnal enuresis (PNE) among relatives of Chinese children with PNE, the inheritance pattern, and to identify the characteristics of PNE with positive family history.
From July 2003 to June 2004, an epidemiological survey on PNE children was carried out by self-administered questionnaires to parents of 5-18-year-old Chinese students in Henan Province, central China. A detailed family history was recorded in order to determine the presence of familial PNE as defined as any close relative with PNE beyond the age of 5 years.
The response rate was 88% (10 383/11 799), and 411 children (235 boys and 176 girls) with PNE were identified. A positive family history was found in 94 families (22.87%) of 411 probands with PNE, 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) mothers. Among the probands the ratio of male to female was 1.3:1 excluding sex-linked inheritance. Autosomal dominant inheritance was in 14.60%, and autosomal recessive inheritance was consistent in 1.46% of families. In PNE children with positive family history, the proportion of adolescents, with associated daytime symptoms, marked PNE and seeking professional help were significantly higher than those in PNE children without positive family history.
PNE has a significant family clustering, and all modes of inheritance can occur in different families on the basis of a formal genetic analysis. Those with positive family history often manifest marked PNE, and have daytime symptoms.
本文旨在确定中国原发性夜间遗尿症（PNE）患儿亲属中PNE的发病率、遗传模式，并识别有阳性家族史的PNE的特征。
2003年7月至2004年6月，通过对中国中部河南省5至18岁学生的家长进行自填式问卷调查，对PNE患儿进行了一项流行病学调查。记录详细的家族史，以确定家族性PNE的存在，定义为任何5岁以上患有PNE的近亲。
应答率为88%（10383/11799），共识别出411例PNE患儿（235名男孩和176名女孩）。在411例PNE先证者家庭中，94个家庭（22.87%）有阳性家族史，包括48.94%的父亲、8.51%的母亲、6.38%的父母双方、6.38%的兄弟姐妹以及29.79%的祖父或（和）祖母。在先证者中，排除性连锁遗传，男女比例为1.3:1。常染色体显性遗传占14.60%，常染色体隐性遗传在1.46%的家庭中一致。有阳性家族史的PNE患儿中，青少年比例、伴有日间症状的比例、重度PNE比例以及寻求专业帮助的比例均显著高于无阳性家族史的PNE患儿。
PNE有显著的家族聚集性，基于正式的遗传分析，所有遗传模式都可能在不同家庭中出现。有阳性家族史者常表现为重度PNE，并伴有日间症状。
