Urological manifestations of Down syndrome.: Significance and long-term complications -: our own patient cohort with an overview

Background. In the literature urogenital anomalies are associated with Down syndrome. Anomalies of the external genitals, posterior urethral valves, and renal dys- or hypoplasia are reported. However, the incidence, etiology, and clinical course of neurogenic and functional bladder dysfunction in Down syndrome are unclear. Material and methods. We report on 23 boys and I girl with Down syndrome with a mean age of 79.4 months. Results. Thirteen boys had uni- or bilateral cryptorchidism. Two had posterior urethral valves, two bladder exstrophy, and two hypospadias. Three children had neurogenic and eight non-neurogenic functional bladder dysfunction. Due to loss of renal function nephrectomy was necessary in three patients. Conclusions. Children with Down syndrome seem to often have associated neurogenic or functional bladder dysfunction, which can lead to upper urinary tract deterioration. Therefore, early and regular sonographic and urodynamic evaluation of the bladder function is mandatory.