Hirschsprung Disease
from OrphaChat — a Rare Disease Podcast Hosted by RCH
In this episode, we explore Hirschsprung disease, a congenital condition characterised by the absence of ganglion cells in the distal bowel, leading to functional obstruction. We discuss the complex genetic landscape involving RET and EDNRBvariants, diagnostic advances comparing calretinin immunohistochemistry with traditional acetylcholinesterase staining, and the efficacy of surgical techniques such as the Soave, Swenson, and Duhamel procedures. Finally, we examine the management of Hirschsprung-associated enterocolitis and the long-term impact on bowel function, fertility, and quality of life in adulthood.
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