Hirschsprung's disease historical perspective
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ahmed Younes M.B.B.CH [2]
Overview
In 1886, Harald Hirschsprung, described the disease for the first time in two infants that died with abdominal distension. 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 thus causing the disease.
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 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.