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Updated: Mar 9, 2026

Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5
Published on: April 26, 2019
Genetic impact on the treatment & management of Hirschsprung disease
1Department of Paediatric Surgery, University of Stellenbosch, Faculty of Medicine and Health Sciences, Cape Town, South Africa.
Background:
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.
Method:
A study of the role of genetics in HD was carried out based on previously published findings from more than 400 cases of HD.
Results:
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.
Conclusion:
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 Of Evidence:
Level V.
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