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Published on: April 26, 2019
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.
Abstract:
Anorectal malformations (ARMs) and Hirschsprung disease (HD) are the most common congenital colorectal defects in the newborn. The outcomes of HD and ARMs have improved significantly because of improved understanding of the pathologic anatomy and physiology of these defects and of the modern surgical techniques. Still, many patients suffer from defective bowel control even as adults. Some of these also have problems with urinary control and sexual functions. The functional problems are more pronounced in patients with ARMs. Compared with healthy people, both patients with ARMs and those with HD have limitations in their quality of life. Inferior quality of life is more common in patients with ARMs. There are very few published data on long-term outcome of adults with ARMs and HD. The effect of aging on the functional outcome and quality of life remains unclear, although some preliminary data suggest that the bowel function and quality of life may deteriorate with aging.
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