Conclusion
Hirschsprung first described HD in 1886, and since then many theories have been postulated to explain the genesis of this rather complex disease. Recent advances and studies in animal models have furnished a better understanding of the embryogenesis of the human enteric nervous system and the pathophysiology of HD. Genetic studies have identified various factors that can collectively influence the disease phenotype in HD. In humans ret, EDRNB, and EDN3 have been implicated in the etiology of HD. No one factor, however, can be singled out, as HD is a complex multigenic disorder. Future studies in identification of abnormal genes that cause dysganglionosis could help in the prevention and treatment of many of the disorders that have a genetic etiology. At this stage genetic counseling is still based on the length of the aganglionic segment. Future research will provide a better understanding of this complex genetic disorder and better means of counseling affected families. Understanding of the pathophysiology and its link to the disease phenotype of HD and its related diseases will also modify treatment options and help future generations of affected families.
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Zutshi, M., Hull, T.L. (2006). Etiology of Congenital Colorectal Disease. In: Wexner, S.D., Duthie, G.S. (eds) Constipation. Springer, London. https://doi.org/10.1007/978-1-84628-275-1_2
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