The phenotype of ostensibly healthy women who are carriers for ornithine transcarbamylase deficiency
The phenotype of ostensibly healthy women who are carriers for ornithine transcarbamylase deficiency
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DOI：
10.1097/00005792-199811000-00004
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发表时间：
1998-11-01
期刊：
影响因子：
1.6
通讯作者：
Brusilow, SW
中科院分区：
文献类型：
--
作者：
Maestri, NE;Lord, C;Brusilow, SW
遗尿症是一种常见的疾病，可引起患者及其家属的情绪、社交甚至心理障碍。据报告，7岁奥尔兹的患病率为10%-15%，10岁奥尔兹为5%-10%，18岁奥尔兹为1%-2%（4，7-9）。病因尚不清楚，只有约5%的遗尿是由于疾病或解剖缺陷或故意所致。大多数当前的理论（12，16）表明，遗传，有机，发展和心理社会因素都发挥了作用。夜尿症的治疗包括药物治疗（盐酸丙咪嗪[Tofranil，Novartis Pharmaceuticals，东汉诺威，NJ][12]、奥昔布宁[Ditropan，Hoechst Marion Quarsel，堪萨斯城，MO][12]和去氨加压素[DDAVP]）（13，16，17，20），行为程序（干床训练、警报、尿潴留训练和括约肌控制练习）（1，2，5，12）、行为疗法（21）、心理疗法（12）和催眠疗法（12）。这些都还没有取得完全的成功，治疗的选择仍然存在争议（6）。药理学方法，特别是盐酸丙咪嗪和DDAVP，已报告产生初始阳性反应，随后在停药后复发率高（13，16，17，20）。Moffatt等人（17）回顾了1993年之前发表的所有18项DDAVP随机对照试验，并得出结论，DDAVP仅在少数病例中产生完全干燥，且仅在短期内。然而，值得注意的是，所有这些试验，以及最近发表的随机对照试验（22，23），都是在一个相对较低的水平上进行的。
Nocturnal enuresis is a common problem that pro-duces many emotional, social, and even psychologic disturbances in patients and their families. The reported prevalence is 10%–15% among 7 year olds, 5%–10% for 10 year olds, and 1%-2% for 18 year olds (4, 7–9). The etiology is unknown, exceptin about 5% of cases in which the enuresis is due to disease or anatomical defects, or is deliberate. Most current theories (12, 16) suggest that genetic, organic, developmental, and psychosocial factors all play a role. Treatment of nocturnal enuresis includes medica-tion (imipramine hydrochloride [Tofranil, Novartis Pharmaceuticals, East Hanover, NJ][12], oxybutynin [Ditropan, Hoechst Marion Roussel, Kansas City, MO][12], and desmopressin [DDAVP])(13, 16, 17, 20), behavioral procedures (dry bed training, alarms, urine retention training, and sphincter control exercises)(1, 2, 5, 12), behavioral therapy (21), psychotherapy (12), and hypnotherapy (12). None of these has yet to achieve complete success, and the treatment of choice remains controversial (6). Pharmacologic methods, especially with imipramine hydrochloride and DDAVP, have been reported to produce an initial positive response, followed by a high rate of relapse upon drug withdrawal (13, 16, 17, 20). Moffatt et al (17) reviewed all 18 randomized controlled trials of DDAVP published before 1993 and concluded that DDAVP produces complete dryness only in a minority of cases and only in the short term. However, it is noteworthy that all these trials, and the more recently published randomized con-trolled trials (22, 23), were performed on a relatively