Clinical manifestations and management of prune-belly syndrome: A 20-year single center experience

Prune Belly Syndrome (PBS) is a rare congenital disorder characterized by abdominal wall musculature deficiency, cryptorchidism, and urinary tract abnormalities. Clinical presentation is highly variable, with multisystem involvement and a wide range of urologic and renal outcomes. Long-term data from contemporary pediatric cohorts remain limited.

We conducted a retrospective review of pediatric patients diagnosed with PBS and followed at a tertiary pediatric urology center between 2002 and 2024. Demographic, clinical, surgical, and urodynamic data were extracted from electronic records. Renal function was assessed by estimated glomerular filtration rate and CKD staging. Comparative analyses were performed between subgroups using Student's t-test or Fisher's exact test, where appropriate. Multivariate logistic regression was performed to evaluate predictors of progression to CKD and renal transplant.

Sixty-four patients (61 males, 3 females) with a median follow-up of 12.6 years were included. Hydronephrosis (87.5 %), vesicoureteral reflux (73.4 %), and recurrent UTIs (76.6 %) were common. Nearly all patients underwent surgical intervention, most frequently orchidopexy (83.6 %), vesicostomy (23.4 %), and appendicovesicostomy (35.9 %). Abdominal wall reconstruction was performed in 45.3 % of patients. CIC was utilized by 35.9 %, typically via a continent catheterizable channel. Urodynamic studies demonstrated large, compliant bladders with impaired emptying. CKD developed in 48.4 % of patients, and 17.2 % required renal transplantation, with nadir serum creatinine in infancy predictive of long-term outcomes.

PBS requires lifelong, multidisciplinary care. Early identification of patients at risk for CKD, proactive bladder management, and coordinated reconstructive surgery are critical to optimizing outcomes. These results reinforce the importance of integrating functional and quality-of-life goals into care planning. Future prospective studies are needed to refine surgical timing, preserve renal function, and better characterize long-term quality-of-life outcomes.