Hirschsprung's disease historical perspective: Difference between revisions
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{{ | {{Hirschprung disease}} | ||
{{CMG}} | {{CMG}}; {{AE}} {{AY}} | ||
==Overview== | ==Overview== | ||
==Historical Perspective== | |||
*In 1886, [[Harald Hirschsprung]], [[Denmark|Danish]] [[physician]] described the disease for the first time in two infants died with abdominal distension. The autopsies showed identical pictures with a pronounced dilatation and hypertrophy of the colon in both the infants. | |||
*In | *In 1993, in August of [[1993]], two independent groups reported that Hirschsprung’s disease could be mapped to a stretch of [[chromosome 10 (human)|chromosome 10]].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 disease. | ||
*In | *In 2002, The [[RET proto-oncogene]] on [[chromosome 10]] was identified and it was determined that [[mutation|dominant mutation]]s may occur within this [[gene]] leading to a loss of function for the protein it [[genetic code|encoded]] causing the disease. | ||
==References== | ==References== | ||
{{WH}} | |||
{{ | {{WS}} | ||
Revision as of 21:24, 13 June 2017
Template:Hirschprung disease Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ahmed Younes M.B.B.CH [2]
Overview
Historical Perspective
- In 1886, Harald Hirschsprung, Danish physician described the disease for the first time in two infants died with abdominal distension. The autopsies showed identical pictures with a pronounced dilatation and hypertrophy of the colon in both the infants.
- In 1993, in August of 1993, two independent groups reported that Hirschsprung’s disease could be mapped to a stretch of chromosome 10.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 disease.
- In 2002, The RET proto-oncogene on chromosome 10 was identified and it was determined that dominant mutations may occur within this gene leading to a loss of function for the protein it encoded causing the disease.