Investigation of genetic changes in a family's individuals with primary enuresis nocturna

Aim: Enuresis nocturna (EN) means that the individual urinates involuntarily during sleep at the age when urine control should be gained. Continuation of bed-wetting state at the age of 5 and over without a dry night period is primary enuresis nocturna; Bed wetting after over 6 months of dryness is called secondary enuresis nocturna. Although the prevalence of enuresis nocturia is reported to be between 3-24.4% worldwide, it is between 10.5- 17.5% in our country. EN continues at the adult age of 2-3%. While the risk of developing a child disease is 43% in the presence of enuresis in one of the parents, the risk increases to 77% in the presence of a history of enuresis in both parents. In order to elucidate the EN etiopathogenesis, three main mechanisms have been focused on: increase in urine volume, decrease in bladder capacity, sleep problems and studies have been conducted on blood pressure increase, hypercalciuria, obesity, psychological and environmental factors. Genetic studies have concentrated on the chromosome 8q, 12q13-21, 13q13-q14.3, 22q11, 4p16.1 regions and the GNAZ, DRD5, D1B, DRD4, nNOS genes associated with these regions, but have not yet reached a clear understanding. Material and Method: In this study, the primary enuresis nocturnal individuals of a family, 6 (six) individuals with inheritance (Group 1) were analyzed by the whole exome sequencing method. Genetic changes that were found appropriate from the data obtained by exom-sequencing were investigated in 7 (seven) individuals (Group 2) of the family whose segregation could not be shown. Results: The common data obtained from the exome sequencing of family members were analyzed. No individual had a pathogenic change in the the chromosome 8q, 12q13-21, 13q13-q14.3, 22q11, 4p16.1 regions and GNAZ, 93 DRD5, D1B, DRD4 genes associated with the enuresis nocturna ın previous studies. Common changes in all genes involved in biological pathways that may lead to an increase in the amount of urine accused in the etiopathogenesis of enuresis nocturia, vasopressin deficiency, decreased bladder capacity, sleep and sleep breathing disorders, autonomic nervous system dysfunction, obesity, hypercalciuria, attention deficit and hyperactivity disorder were examined and all of them were found to have benign character. Conclusion: In order to elucidate the etiology of enuresis nocturia, whole genome studies with more cases; more studies on pathophysiology and epidemiology are needed. This study is the first study in the world literature with DNA sequencing after previous connection studies on enuresis nocturna genetics.