Anti-diuretic hormone and genetic study in primary nocturnal enuresis

作者：Fatouh Amany A A; Motawie Ayat A; Abd Al Aziz Amany M^*; Hamed Hanan M; Awad Mona A M; Abd El Ghany Amany; El Bassyouni Hala T; Shehab Marwa I K; Eid Maha M

来源：Journal of Pediatric Urology, 2013, 9(6): 831-837.

DOI：10.1016/j.jpurol.2012.11.009

• Primary nocturnal enuresis
• Anti-diuretic hormone
• Mode of inheritance
• Cyto-genetics

Objective: 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.
Subjects and methods: 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.
Results: 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.
Conclusion: PNE could be attributed in part to reversed ADH circadian rhythm which may be linked to chromosome 22.

• 出版日期2013-12