Pediatric Department, National Research Centre, Cairo, Egypt.
J Pediatr Urol. 2013 Dec;9(6 Pt A):831-7. doi: 10.1016/j.jpurol.2012.11.009. Epub 2012 Dec 14.
To investigate whether primary nocturnal enuresis (PNE) is related to a disturbance in anti-diuretic hormone (ADH) secretion pattern at night which may be genetically inherited.
This study included 121 children aged 6-18 years with PNE and 45 matched healthy children as controls. Enuretic children were subjected to genetic evaluation and cytogenetic assessment (n = 99). Assay of ADH levels (9-11 am & 9-11 pm) was performed for cases (n = 99) and controls.
There was a positive family history in 82.4% (autosomal dominant in 35.4% and autosomal recessive in 64.6%). ADH morning and evening values were reversed in cases vs controls with significant difference in morning level. Reversal of circadian rhythm was present in 71.7% of cases and normal rhythm in 28.3% of them. Morning and evening ADH levels revealed significant difference between patients with reversed rhythm and those with normal one, and with controls. Mode of inheritance had no influence on hormonal level. Chromosomal abnormality was detected in 3 cases with reversed ADH rhythm, involving chromosome 22 in two of them.
PNE could be attributed in part to reversed ADH circadian rhythm which may be linked to chromosome 22.
探讨原发性夜间遗尿症（PNE）是否与夜间抗利尿激素（ADH）分泌模式的紊乱有关，这种紊乱可能是遗传的。
本研究纳入了 121 名年龄在 6-18 岁的 PNE 患儿和 45 名匹配的健康儿童作为对照组。遗尿患儿进行了遗传评估和细胞遗传学评估（n=99）。对 99 例患儿和对照组进行了 ADH 水平检测（上午 9-11 点和晚上 9-11 点）。
82.4%（常染色体显性遗传 35.4%，常染色体隐性遗传 64.6%）有阳性家族史。病例组与对照组相比，ADH 早晚值颠倒，上午水平差异有统计学意义。71.7%的病例存在昼夜节律颠倒，28.3%的病例存在正常节律。昼夜节律颠倒的患者与正常节律的患者和对照组相比，ADH 早晚水平差异有统计学意义。遗传方式对激素水平无影响。3 例昼夜节律颠倒的患者检测到染色体异常，其中 2 例涉及 22 号染色体。
PNE 部分归因于 ADH 昼夜节律颠倒，可能与 22 号染色体有关。
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