Genetic Etiology Investigation in Treatment-Resistant Nocturnal Enuresis Children: A Descriptive Study
Urology Journal, cilt.22, sa.3, ss.152-155, 2025 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 22 Sayı: 3
- Basım Tarihi: 2025
- Doi Numarası: 10.22037/uj.v22i.8264
- Dergi Adı: Urology Journal
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CINAHL, MEDLINE, Directory of Open Access Journals
- Sayfa Sayıları: ss.152-155
- Anahtar Kelimeler: children, enuresis, genetics, treatment-resistant
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Purpose: Our study aimed to evaluate the genetic etiology of treatment-resistant nocturnal enuresis in children who did not respond to at least six months of behavioral therapy, urotherapy, alarm therapy, and medical treatment. Materials and Methods: A total of 21 children, aged 5-18 years, diagnosed with treatment-resistant enuresis according to International Children’s Continence Society (ICCS) guidelines were included. The capture-based Sophia Hereditary Disease Panel by Sophia Genetics was used to analyze a panel of 19 genes associated with nocturnal enuresis (AGXT, AQP2, AVPR2, BNC2, CLCNKB, DLG3, ELN, FA2H, FAM20A, FOXP1, HPSE2, KCNJ10, MLXIPL, NPHP3, RNF168, SLC12A3, SLC25A13, SLC5A2, SMARCA2). Results: No pathogenic changes that could explain the etiology of the disease were detected in 20 patients. One patient exhibited a variant in the AQP2 gene (hg19:Chr12:50344908, exon 1, c.295G>A), which was classified as a Variant of Uncertain Significance (VUS) according to the American College of Medical Genetics and Genomics (ACMG) 2015 guidelines. The AQP2 gene is associated with autosomal dominant and autosomal recessive inherited nephrogenic diabetes insipidus (type 2) in the OMIM database. Conclusion: Our findings support previous studies indicating that nocturnal enuresis does not have a monogenic etiology but rather results from multifactorial effects, with a weak correlation between genotype and phenotype.