Modern management of and update on prune belly syndrome

Abstract

Prune belly syndrome (PBS) is characterized by the triad of abdominal flaccidity, a variable degree of urinary tract involvement and cryptorchidism. Most cases of PBS are sporadic and have a normal karyotype, with 95% patients being male. In the last decade, mutations in known genes that regulate embryonic genitourinary myogenesis have been identified and with increasing knowledge of these critical genes involved in bladder maldevelopment, advances can be made in genetic counseling. A multidisciplinary approach is necessary and individualization of care is recommended according to phenotypic severity. Some patients require abdominal and urinary tract reconstruction while others require as little as bilateral orchiopexies. Major treatment objectives are: preservation of renal function and upper urinary tract; polyuria management; adequate bladder emptying; improvement of corporal image and quality of life; preservation of fertility and adequate sexual function. Long-term surveillance of the urinary tract is essential up to adulthood, because functional dynamics can change over time.