Genetic Contributions, Phenotypic Characteristics, and Follow-Up Outcomes in Patients with Non-Neurogenic Neurogenic Bladder

Background: Non-neurogenic neurogenic bladder (NNNB) represents a significant clinical challenge in children. This study investigated the clinical characteristics, urodynamic findings, genetic background, and management outcomes in Taiwanese patients with NNNB. Methods: We analyzed 11 patients (6 females, 5 males) with NNNB from multiple Taiwanese medical centers. Evaluations included renal function assessment, urinary tract imaging, voiding cystourethrography, uroflowmetry, and genetic analysis. Results: Median age 8 years (2-18). Underlying conditions: motility bowel disease, megacolon, prune-belly syndrome, intractable constipation; 2 with colostomy. Initial eGFR 44-102 ml/min/1.73m2. Common findings: bladder wall thickening (6/11), emptying disorders (5/11), hydronephrosis (3/11). Vesicoureteral reflux in 4 patients (grades 1-4). Abnormal voiding in 8 patients; max flow 6.1-28 ml/sec. Genetic mutations in 7 (64%): ACTG2 (3), CHRNA3 (2), TP63, LRIG2. Management: spontaneous voiding (7), intermittent catheterization (3), indwelling catheter (1). UTI frequency: never to every 2-3 months. Over 5.5 years, two-thirds developed hydroureteronephrosis; 3 reached advanced CKD (2 stage IV, 1 stage V) Conclusion: Our study demonstrates significant clinical heterogeneity in NNNB with identifiable genetic mutations in approximately two-thirds of cases. ACTG2 and CHRNA3 mutations were most common, associated with severe bladder dysfunction and gastrointestinal motility disorders. These findings suggest important genotype-phenotype correlations that may guide personalized management approaches and genetic counseling.