Hirschsprung's disease overview: Difference between revisions

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==Treatment==
==Treatment==
===Surgery===
===Surgery===
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 (human)|chromosome 10]] <ref>{{Cite journal
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).
| author = [[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]]
| title = A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10
| journal = [[Nature genetics]]
| volume = 4
| issue = 4
| pages = 351–356
| year = 1993
| month = August
| doi = 10.1038/ng0893-351
| pmid = 8401581
| url = http://www.nature.com/ng/journal/v4/n4/abs/ng0893-351.html
}}</ref><ref>Lyonnet et al. 1993, Nature Genetics 4, 346-350 [http://www.nature.com/ng/journal/v4/n4/abs/ng0893-346.html]</ref>. 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==
==References==

Revision as of 17:34, 19 March 2013

Hirschsprung's disease Microchapters

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [2]

Overview

Hirschsprung's disease involves an enlargement of the colon, caused by bowel obstruction resulting from an aganglionic section of bowel (the normal enteric nerves are absent) that starts at the anus and progresses upwards. The length of bowel that is affected varies but seldom stretches for more than a foot or so.

Historical Perspective

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.

Pathophysiology

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]

Diagnosis

Other Imaging Findings

A barium enema is the mainstay of diagnosis of Hirschsprung’s disease.

Other Diagnostic Studies

A rectal biopsy showing the lack of ganglion cells is the only certain method of diagnosis.

Treatment

Surgery

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).

References

  1. Worman and Ganiats 1995, Am Fam Physician 51, 487-494 [1]