Eiberg H, Berendt I, Mohr J
University Institute of Medical Biochemistry & Genetics, Department of Medical Genetics, Danish Centre for Genome Research, Copenhagen, Denmark.
Nat Genet. 1995 Jul;10(3):354-6. doi: 10.1038/ng0795-354.
Nocturnal enuresis, or nightly bedwetting in children more than seven years of age affects about 10% of seven-year-old children, with a wide range of frequencies between populations. The affliction is often linked to major social maladjustments and occupies considerable time in general practice. From the age of seven there is a spontaneous cure rate of 15% per year, such that few remain affected after the age of 16 years. There are two types of nocturnal enuresis: type I (PEN1, primary) with at least three nightly episodes in children above seven years, where the child has always had the disorder and type II (secondary) where the child has been dry for at least six months, but enuresis has recurred. Among some 400 Danish, mostly three-generation families, we have found 17 families with nocturnal enuresis. Eleven of these family had type I nocturnal enuresis (PEN1) that appeared to follow an autosomal dominant mode of inheritance with penetrance above 90%. We now describe strong evidence of linkage with the DNA polymorphisms D13S291 (Z = 3.55; theta M = F = 0.07) and D13S263 (Z = 2.67; theta M = F = 0.08). Multipoint analysis indicates that these markers flank the disease locus at chromosome 13q13-q14.3.
夜间遗尿症，即7岁以上儿童夜间尿床，影响约10%的7岁儿童，不同人群的发病频率差异很大。这种疾病常与严重的社会适应不良有关，在全科医疗中占用大量时间。从7岁起，每年有15%的自发治愈率，因此16岁以后很少有人仍受影响。夜间遗尿症有两种类型：I型（PEN1，原发性），7岁以上儿童每晚至少尿床3次，患儿一直患有该疾病；II型（继发性），患儿至少有6个月未尿床，但遗尿症复发。在约400个丹麦家庭（大多为三代同堂家庭）中，我们发现了17个患有夜间遗尿症的家庭。其中有11个家庭患I型夜间遗尿症（PEN1），其遗传方式似乎为常染色体显性遗传，外显率超过90%。我们现在描述了与DNA多态性D13S291（Z = 3.55；θM = F = 0.07）和D13S263（Z = 2.67；θM = F = 0.08）连锁的有力证据。多点分析表明，这些标记位于13号染色体q13-q14.3上的疾病基因座两侧。
