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Genetic Etiology Investigation in Treatment-Resistant Nocturnal Enuresis Children: A descriptive study

Sevim Yener1, Metin Eser2

  • 1Health Sciences University Umraniye Training and Research Hospital, Department of Pediatric Urology, Istanbul, Turkey. sevimyener@msn.com.

Urology Journal
|December 1, 2024
PubMed

Insights

Genetic analysis of treatment-resistant nocturnal enuresis in children found no clear monogenic cause. Most patients showed no pathogenic variants, suggesting multifactorial influences rather than single gene defects.

Area of Science:

  • Pediatric Nephrology
  • Clinical Genetics
  • Molecular Biology

Background:

  • Nocturnal enuresis is a common childhood condition.
  • Treatment-resistant cases pose diagnostic challenges.
  • Genetic factors are suspected but not fully elucidated.

Purpose of the Study:

  • To investigate the genetic basis of treatment-resistant nocturnal enuresis in children.
  • To identify potential genetic variations linked to refractory enuresis.
  • To evaluate the role of specific genes in disease etiology.

Main Methods:

  • Study included 21 children aged 5-18 with treatment-resistant enuresis.
  • Genetic analysis performed using the Sophia Hereditary Disease Panel for nocturnal enuresis.
  • Panel covered 19 genes associated with enuresis and related conditions.

Main Results:

  • No pathogenic genetic variations were identified in 20 out of 21 patients.
  • One patient had a Variant of Uncertain Significance (VUS) in the AQP2 gene.
  • The AQP2 gene is linked to nephrogenic diabetes insipidus.

Conclusions:

  • Results suggest nocturnal enuresis lacks a simple monogenic etiology.
  • Multifactorial genetic influences are likely involved.
  • Genotype-phenotype correlations appear weak in these cases.
Abstract

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