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Anorectal malformation: the etiological factors
Chen Wang1, Long Li, Wei Cheng
1Department of Pediatric Surgery, Capital Institute of Pediatrics, No.2 Ya Bao Road, Beijing, 100020, People's Republic of China.
Pediatric Surgery International
|April 23, 2015
Summary
Anorectal malformation (ARM) is a congenital anomaly. This review explores genetic and epigenetic factors in ARM development, offering insights for future management strategies.
Area of Science:
- Pediatric Surgery
- Developmental Biology
- Medical Genetics
Background:
- Anorectal malformation (ARM) is a common congenital anomaly in pediatric surgery.
- Surgical correction of ARM anomalies does not always ensure satisfactory post-operative bowel function.
- The precise causes of anorectal malformations remain largely unknown.
Purpose of the Study:
- To review current knowledge on genetic and epigenetic factors in ARM pathogenesis.
- To synthesize findings from animal models, human genetics, and epidemiological studies.
- To provide a foundation for improved future management of ARM.
Main Methods:
- Literature review of published research.
- Analysis of data from animal models of ARM.
- Examination of human genetic and epidemiological studies related to ARM.
Main Results:
- Identified various genetic and epigenetic factors implicated in ARM development.
- Highlighted the complexity of ARM etiology, involving multiple contributing elements.
- Emphasized the role of both genetic predisposition and environmental influences.
Conclusions:
- Understanding genetic and epigenetic factors is crucial for unraveling ARM pathogenesis.
- This knowledge may lead to better diagnostic tools and therapeutic approaches for ARM.
- Further research into the molecular mechanisms underlying ARM is warranted.
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