[Prune-Belly Syndrome: a case report].

Area of Science:

• Nephrology
• Urology
• Genetics

Background:

• Prune-Belly Syndrome (PBS) is a rare congenital disorder affecting males, characterized by abdominal muscle deficiency, urinary tract anomalies, and often leading to chronic kidney disease (CKD).
• The syndrome affects approximately 1 in 35,000 to 50,000 live births, with males predominantly impacted (97%).

Observation:

• A 38-year-old male with a history of PBS, CKD, testicular implants, bladder surgery, and pectus excavatum correction was monitored.
• Initial assessment revealed severely impaired renal function (creatinine 3.3 mg/dl, GFR 23 ml/min), nephrotic-range proteinuria, hypertension, anemia, and hyperparathyroidism.
• Despite a low-protein diet, renal function progressively worsened, necessitating hemodialysis.

Findings:

• The patient required hemodialysis due to deteriorating renal function, with successful creation of an arteriovenous fistula (AVF) after an initial failed attempt.
• The case is notable for the late initiation of renal replacement therapy in a patient with PBS and advanced CKD.
• The patient is being considered for kidney transplantation, with positive surgical feasibility evaluations.

Implications:

• Prune-Belly Syndrome presents significant challenges, often progressing to end-stage renal disease (ESRD) if not managed promptly and effectively.
• Early and appropriate management, including renal replacement therapy and potential transplantation, can lead to favorable outcomes for patients with PBS-related CKD.
• This case underscores the importance of comprehensive care and timely intervention for rare congenital disorders like PBS.