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Anti-diuretic hormone and genetic study in primary nocturnal enuresis
Amany A A Fatouh1, Ayat A Motawie, Amany M Abd Al-Aziz
1Pediatric Department, National Research Centre, Cairo, Egypt.
Insights
Primary nocturnal enuresis (PNE) in children may stem from a reversed anti-diuretic hormone (ADH) secretion pattern. This disruption in the ADH circadian rhythm is potentially linked to genetic factors and chromosome 22.
Area of Science:
- Pediatric endocrinology
- Genetics
- Sleep medicine
Background:
- Primary nocturnal enuresis (PNE) is a common condition in children.
- The underlying mechanisms of PNE are not fully understood.
- Genetic predisposition is suspected in some cases of PNE.
Purpose of the Study:
- To investigate the potential link between primary nocturnal enuresis (PNE) and disturbances in anti-diuretic hormone (ADH) secretion patterns.
- To explore the genetic inheritance of PNE and its association with ADH secretion.
- To determine if a reversed circadian rhythm of ADH is present in children with PNE.
Main Methods:
- A study involving 121 children with PNE and 45 healthy controls aged 6-18 years.
- Genetic evaluation and cytogenetic assessment were performed on 99 children with PNE.
- Assays of anti-diuretic hormone (ADH) levels were conducted in the morning and evening for cases and controls.
Main Results:
- A positive family history of PNE was reported in 82.4% of cases.
- Reversed circadian rhythm of ADH was observed in 71.7% of children with PNE, with significantly different morning ADH levels compared to controls.
- Chromosomal abnormalities, including involvement of chromosome 22, were detected in three cases with reversed ADH rhythm.
Conclusions:
- Primary nocturnal enuresis (PNE) may be partly caused by a reversed ADH circadian rhythm.
- This reversed rhythm could be genetically inherited and potentially linked to chromosome 22.
- Further research is warranted to elucidate the precise role of ADH rhythm and genetics in PNE.
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.
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