Symptomatic lower urinary tract dysfunction in sacral agenesis: Potentially high risk?

Area of Science:

• Urology
• Pediatric Surgery
• Nephrology

Background:

• Sacral agenesis (SA) is a caudal regression anomaly.
• SA can lead to neurogenic bladder but is often underestimated in risk.
• Comparison with anorectal malformation (ARM) and cloacal malformation is needed.

Purpose of the Study:

• To investigate the clinical presentation, urinary tract, bone, spine, and urodynamic findings in SA patients.
• To compare SA patients with ARM and cloacal malformation.
• To identify risk factors for reduced kidney function in SA.

Main Methods:

• Retrospective study of 39 neurogenic bladder patients (May 2011-December 2015).
• Patients grouped into isolated SA (Group I), SA with caudal regression (Group II), and ARM/cloacal malformation (Group III).
• Clinical and urodynamic data analyzed using statistical tests (rank sum, t-test, odds).

Main Results:

• SA patients (Groups I & II) exhibited poor bladder compliance, reduced capacity, elevated end-fill pressure, and hydronephrosis.
• Renal function (eGFR) was reduced in 29% of SA patients, comparable to Group III.
• Most SA patients had specific spinal abnormalities (Renshaw type II, tethered cord).

Conclusions:

• Symptomatic neurogenic bladder in SA can lead to renal damage similar to ARM.
• SA-related neurogenic bladder often evades timely diagnosis.
• Increased awareness and diagnostic vigilance for SA are warranted.