Hirschsprung's disease historical perspective: Difference between revisions
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==Overview== | ==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 | 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; it was determined that possible [[mutation|dominant mutation]]s in this [[gene]] may lead to loss of function in [[genetic code|encoded]] protein, and finally causing the disease. | ||
==Historical Perspective== | ==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 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 August | *In August 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 to be cause of Hirschsprung’s disease. | ||
*In 2002, The [[RET proto-oncogene]] on [[chromosome 10]] was identified | *In 2002, The [[RET proto-oncogene]] on [[chromosome 10]] was identified; it determined that possible [[mutation|dominant mutation]]s within this [[gene]] may lead to loss of function in [[genetic code|encoded]] protein and cause the disease. | ||
==References== | ==References== | ||
{{WH}} | {{WH}} | ||
{{WS}} | {{WS}} | ||
Revision as of 14:42, 27 July 2017
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Hirschsprung's disease Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Hirschsprung's disease historical perspective On the Web |
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American Roentgen Ray Society Images of Hirschsprung's disease historical perspective |
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Risk calculators and risk factors for Hirschsprung's disease historical perspective |
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; it was determined that possible dominant mutations in this gene may lead to loss of function in encoded protein, and finally 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 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 to be cause of Hirschsprung’s disease.
- In 2002, The RET proto-oncogene on chromosome 10 was identified; it determined that possible dominant mutations within this gene may lead to loss of function in encoded protein and cause the disease.