A rare congenital abnormality leading to chronic kidney disease in an adult male

Prune Belly Syndrome (PBS) is a rare congenital disorder almost exclusively affecting males with most patients not surviving beyond infancy. We present a middle-aged man who received a diagnosis of PBS during investigation of newly diagnosed chronic kidney disease and his management.

 

A 35-year-old asymptomatic man who was referred by his general practitioner for further evaluation of incidentally detected end-stage chronic kidney disease. A non-contrast CT scan of the urinary tract revealed absence of anterior abdominal wall musculature, abnormal kidneys, bilateral hydroureter, and a thickened enlarged bladder. A prompt diagnosis of PBS was made with the CT findings in the clinical context of protruding abdomen and bilateral absent testes. He was managed with bladder decompression with an indwelling urinary catheter and a urology referral was made for consideration of reconstruction of ureters and renal transplant.

 

This case emphasizes the possible first encounters with this rare congenital condition even in adults, and thus the need to improve awareness among clinicians about its prompt diagnosis and appropriate treatment for better clinical outcomes.