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• W2551008031 abstract "The identification of Hirschsprung's disease (HD) as a genetic condition has been a major step forward in understanding the development of the enteric nervous system and conditions arising from ganglion cell maldevelopment.A study of the role of genetics in HD was carried out based on previously published findings from more than 400 cases of HD.There are at least 7 pertinent clinical questions related to HD which were further investigated. These included: diagnosis, familial recurrence, long segment and total colonic aganglionosis, syndromic associations, the question of HD-associated enterocolitis, potential causes of postoperative obstructive symptoms after successful surgery, and the apparent low prevalence in premature infants. This review aimed at evaluating the most important concepts of where we have got to in our understanding of where genetic solutions/directions to these clinical problems might lie. Possible genetic reasons for the low prevalence in premature infants was also considered and the possible plasticity of the ENS at that stage as a potential door of hope in the future management of HD.The study of genetics has made a massive contribution to the understanding and management of HD. It opens a door of hope to the future management of the condition.Level V." @default.
• W2551008031 created "2016-11-30" @default.
• W2551008031 creator A5062927668 @default.
• W2551008031 date "2017-02-01" @default.
• W2551008031 modified "2023-09-23" @default.
• W2551008031 title "Genetic impact on the treatment & management of Hirschsprung disease" @default.
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• W2551008031 doi "https://doi.org/10.1016/j.jpedsurg.2016.11.012" @default.
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