Outcome of anorectal malformations and Hirschsprung's disease beyond childhood

Risto J Rintala1, Mikko P Pakarinen

  • 1Section of Pediatric Surgery, Hospital for Children and Adolescents, University of Helsinki, FIN-00029Helsinki, Finland. risto.rintala@hus.fi

Insights

Adults with congenital colorectal defects, including anorectal malformations (ARMs) and Hirschsprung disease (HD), often experience lifelong bowel and quality of life issues. Long-term outcomes and the impact of aging on these patients require further investigation.

Area of Science:

  • Pediatric Surgery
  • Gastroenterology
  • Genetics

Background:

  • Anorectal malformations (ARMs) and Hirschsprung disease (HD) are common congenital colorectal defects.
  • While surgical outcomes have improved, many patients face persistent functional deficits into adulthood.

Purpose of the Study:

  • To review the long-term functional outcomes and quality of life in adults with ARMs and HD.
  • To identify factors influencing long-term results and the impact of aging.

Main Methods:

  • Literature review of studies focusing on adult outcomes of ARMs and HD.
  • Analysis of functional deficits (bowel, urinary, sexual) and quality of life metrics.

Main Results:

  • Adults with ARMs and HD frequently experience impaired bowel control and reduced quality of life compared to healthy individuals.
  • Functional problems, particularly bowel control issues, are more severe in patients with ARMs.
  • Data on long-term outcomes and the effects of aging are limited but suggest potential deterioration over time.

Conclusions:

  • Despite surgical advancements, significant long-term functional challenges persist for individuals with ARMs and HD.
  • Further research is crucial to understand the aging process in these patients and optimize lifelong management strategies.

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