von Gontard A, Hollmann E, Eiberg H, Benden B, Rittig S, Lehmkuhl G
Department of Child and Adolescent Psychiatry, University of Cologne, Germany.
Scand J Urol Nephrol Suppl. 1997;183:11-6.
The objective of the current study was to identify the associations between phenotype and genotype in children with nocturnal enuresis. Of the total of 167 wetting children, aged 5-10 years, without neurological or structural forms of incontinence, 110 were nocturnal enuretics. The examinations included a full psychiatric and psychological assessment, a paediatric and neurological examination, a family history with pedigree, ultrasonography, uroflowmetery, urinanalysis and bacteriology. Children with secondary nocturnal enuresis (n = 28) had a significantly higher rate of behavioural disorders, life events and continuous psychosocial stress than those with primary nocturnal enuresis (n = 82). Of the latter group, children with primary monosymptomatic nocturnal enuresis (n = 50) had an especially low rate of behavioural problems, when in comparison to primary non-monosymptomatic nocturnal enuretics (n = 32). Formal genetics point to a high genetic predisposition to nocturnal enuresis in all subgroups. Linkage studies to markers on chromosomes 8, 12 and 13 demonstrate both clinical, as well as genetic heterogeneity in nocturnal enuresis.
本研究的目的是确定夜间遗尿症儿童的表型与基因型之间的关联。在167名年龄在5至10岁、无神经或结构性失禁形式的尿床儿童中，110名是夜间遗尿症患者。检查包括全面的精神和心理评估、儿科和神经科检查、家族史及谱系分析、超声检查、尿流率测定、尿液分析和细菌学检查。继发性夜间遗尿症患儿（n = 28）的行为障碍、生活事件和持续性心理社会压力发生率显著高于原发性夜间遗尿症患儿（n = 82）。在后者中，原发性单纯性夜间遗尿症患儿（n = 50）与原发性非单纯性夜间遗尿症患儿（n = 32）相比，行为问题发生率特别低。正规遗传学研究表明，所有亚组中夜间遗尿症都有很高的遗传易感性。与8号、12号和13号染色体上的标记物进行的连锁研究表明，夜间遗尿症存在临床及遗传异质性。
