Hirschsprung's disease historical perspective: Difference between revisions
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Revision as of 20:24, 27 November 2012
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Hirschsprung's disease Microchapters |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [3]
History and Description
This disease is named for Harald Hirschsprung, the Danish physician who first described the disease in 1886, describing two infants who had died with swollen bellies. "The autopsies showed identical pictures with a pronounced dilatation and hypertrophy of the colon as the dominant features" (Madsen 17:2).
Hirschsprung’s disease is a congenital disorder of the colon in which certain nerve cells, known as ganglion cells, are absent, causing chronic constipation [1]. A barium enema is the mainstay of diagnosis of Hirschsprung’s, though a rectal biopsy showing the lack of ganglion cells is the only certain method of diagnosis.
The usual treatment is "pull-through" surgery where the portion of the colon that does have nerve cells is pulled through and sewn over the part that lacks nerve cells (National Digestive Diseases Information Clearinghouse). For a long time, Hirschsprung’s was considered a multi-factorial disorder, where a combination of nature and nurture were considered to be the cause (Madsen 19). However, in August of 1993, two articles by independent groups in Nature Genetics said that Hirschsprung’s disease could be mapped to a stretch of chromosome 10 [2][3]. This research also suggested that a single gene was responsible for the disorder. However, the researchers were unable to isolate the single gene that they thought caused Hirschsprung’s.
References
- ↑ Worman and Ganiats 1995, Am Fam Physician 51, 487-494 [1]
- ↑ M. Angrist, E. Kauffman, S. A. Slaugenhaupt, T. C. Matise, E. G. Puffenberger, S. S. Washington, A. Lipson, D. T. Cass, T. Reyna & D. E. Weeks (1993). "A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10". Nature genetics. 4 (4): 351–356. doi:10.1038/ng0893-351. PMID 8401581. Unknown parameter
|month=ignored (help) - ↑ Lyonnet et al. 1993, Nature Genetics 4, 346-350 [2]