A Regional Genetic Study of Primary Monosymptomatic Nocturnal Enuresis Using Chromosomal Microarray Analysis.

IF 0.9 4区医学 Q3 UROLOGY & NEPHROLOGY

Urology Journal Pub Date : 2025-10-08 DOI:10.22037/uj.v22i.8501

Oğuzhan Yarali, Yüksel Sümeyra Naralan

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引用次数: 0

Abstract

Purpose: This study aimed to investigate the genetic heterogeneity of primary monosymptomatic nocturnal enuresis (PMNE) and assess potential genetic variants contributing to its etiology.

Materials and methods: A total of 92 children aged 5-15 years with a positive family history of PMNE were evaluated. All patients underwent detailed urological and nephrological assessments to exclude organic causes. Genetic testing was performed using high-resolution chromosomal microarray technology to identify potential pathogenic variants.

Results: No pathogenic or likely pathogenic copy number variations were identified. A small number of patients exhibited variants of uncertain significance (VUS), none of which were conclusively linked to PMNE after parental segregation analysis. Our findings challenge previous studies that reported significant genetic markers and highlight the complex genetic architecture of PMNE.

Conclusion: This study reinforces the genetic heterogeneity of PMNE and suggests it follows a polygenic and multifactorial inheritance pattern. Further research using whole-exome and whole-genome sequencing is needed to explore potential genetic contributors alongside environmental factors.

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区域遗传研究：单症状夜间遗尿和阵列技术。

目的：本研究旨在探讨原发性单症状性夜间遗尿症（PMNE）的遗传异质性，并评估其病因的潜在遗传变异。材料与方法：对92例5 ~ 15岁有经前卵巢综合征家族史的儿童进行评估。所有患者都进行了详细的泌尿和肾脏评估，以排除器质性原因。采用高分辨率微阵列技术进行基因检测，以确定潜在的致病变异。结果：未发现致病性或可能致病性突变。少数患者表现出不确定意义的变异（VUS），其中没有一个与PMNE确切相关。我们的发现挑战了先前报道了重要遗传标记的研究，并强调了PMNE的复杂遗传结构。结论：本研究强化了PMNE的遗传异质性，提示其遵循多基因多因子遗传模式。需要进一步利用全外显子组和全基因组测序来探索潜在的遗传因素和环境因素。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Urology Journal UROLOGY & NEPHROLOGY-

CiteScore

2.60

自引率

6.70%

发文量

审稿时长

6-12 weeks

期刊介绍： As the official journal of the Urology and Nephrology Research Center (UNRC) and the Iranian Urological Association (IUA), Urology Journal is a comprehensive digest of useful information on modern urology. Emphasis is on practical information that reflects the latest diagnostic and treatment techniques. Our objectives are to provide an exceptional source of current and clinically relevant research in the discipline of urology, to reflect the scientific work and progress of our colleagues, and to present the articles in a logical, timely, and concise format that meets the diverse needs of today’s urologist. Urology Journal publishes manuscripts on urology and kidney transplantation, all of which undergo extensive peer review by recognized authorities in the field prior to their acceptance for publication. Accordingly, original articles, case reports, and letters to editor are encouraged.