Pocket Companion to Robbins & Cotran Pathologic Basis of Disease (Robbins Pathology) by Mitchell Richard & Kumar Vinay & Fausto Nelson & Abbas Abul K. & Aster Jon
Author:Mitchell, Richard & Kumar, Vinay & Fausto, Nelson & Abbas, Abul K. & Aster, Jon [Mitchell, Richard]
Language: eng
Format: epub
ISBN: 9781416054542
Publisher: Elsevier Health Sciences
Published: 2011-05-24T14:00:00+00:00
Hirschsprung Disease (p. 766)
Also known as congenital aganglionic megacolon, this disorder results from arrested migration of neural crest cells into the gut, yielding an aganglionic segment lacking peristaltic contractions; there is functional obstruction and progressive dilation and hypertrophy of unaffected proximal colon. It occurs in roughly 1 in 5000 live births. The rectum is always affected; proximal involvement is more variable.
Pathogenesis (p. 766)
There is a genetic component in most cases. Heterozygous loss-of-function mutations in the RET tyrosine kinase receptor accounts for 15% of sporadic cases and the majority of familial cases; more than seven other genes involved in enteric neurodevelopment have been identified. Penetrance is incomplete, influenced by sex-linked factors (males are four times more commonly affected) and other genetic and environmental modifiers.
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