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Purpose <p>Patients with anorectal malformation (ARM) and associated sacral agenesis (SA) are at increased risk of long-term bowel and bladder dysfunction, but outcome data to guide early counselling and follow-up remain limited. We aimed to evaluate bowel and bladder outcomes in patients with concurrent ARM and SA, with a focus on transanal irrigation (TAI) and clean intermittent catheterization (CIC) use.</p> Methods <p>In this retrospective single-center cohort study, all patients with ARM and SA born between January 2000 and January 2024 were included. SA was diagnosed radiologically and classified using Pang’s classification. The primary outcome was TAI and/or CIC use. Secondary outcomes included fecal incontinence (≥ 4 years), urinary incontinence (≥ 5 years), and neurogenic bladder.</p> Results <p>In total, 41 patients were included, with a median age at follow-up of 11.2 years. Of 33 patients ≥ 4 years, 22 (66.7%) used TAI during follow-up, primarily for fecal incontinence. Fecal incontinence was present in 26.3% of current TAI users versus 71.4% of non-users (<i>p</i> = .015). CIC was initiated in 18 of 41 patients (43.9%), mostly due to urodynamically confirmed neurogenic bladder. TAI and CIC use were associated with ARM complexity, but not with radiological SA severity.</p> Conclusion <p>Patients with concurrent ARM and SA represent a high-risk group for long-term bowel and bladder dysfunction, and many require structured bowel and/or bladder management. These findings support anticipatory counselling and multidisciplinary follow-up.</p>

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Bowel and bladder outcomes in patients with anorectal malformations and sacral agenesis: a retrospective cohort study

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年5月28日

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  • J. N. Theeuwes,
  • C. M. C. de Beaufort,
  • C. J. McDonald,
  • D. P. Bakker,
  • J. van Schuppen,
  • C. F. Kuijper,
  • O. E. Arguedas Flores,
  • J. R. de Jong,
  • M. E. B. Kremer,
  • R. R. Gorter

摘要

Purpose

Patients with anorectal malformation (ARM) and associated sacral agenesis (SA) are at increased risk of long-term bowel and bladder dysfunction, but outcome data to guide early counselling and follow-up remain limited. We aimed to evaluate bowel and bladder outcomes in patients with concurrent ARM and SA, with a focus on transanal irrigation (TAI) and clean intermittent catheterization (CIC) use.

Methods

In this retrospective single-center cohort study, all patients with ARM and SA born between January 2000 and January 2024 were included. SA was diagnosed radiologically and classified using Pang’s classification. The primary outcome was TAI and/or CIC use. Secondary outcomes included fecal incontinence (≥ 4 years), urinary incontinence (≥ 5 years), and neurogenic bladder.

Results

In total, 41 patients were included, with a median age at follow-up of 11.2 years. Of 33 patients ≥ 4 years, 22 (66.7%) used TAI during follow-up, primarily for fecal incontinence. Fecal incontinence was present in 26.3% of current TAI users versus 71.4% of non-users (p = .015). CIC was initiated in 18 of 41 patients (43.9%), mostly due to urodynamically confirmed neurogenic bladder. TAI and CIC use were associated with ARM complexity, but not with radiological SA severity.

Conclusion

Patients with concurrent ARM and SA represent a high-risk group for long-term bowel and bladder dysfunction, and many require structured bowel and/or bladder management. These findings support anticipatory counselling and multidisciplinary follow-up.