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 Hirschsprung's disease for the first time in two infants who 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 the encoded protein, leading to development of the disease.

Historical Perspective

  • In 1886, Danish physician Harald Hirschsprung described the disease for the first time in two infants died with abdominal distension. The autopsies showed identical pictures with pronounced dilatation and hypertrophy of the colon in both 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 was determined that possible dominant mutations within this gene may lead to the loss of function in the encoded protein and cause the disease.[1][2][3]

References

  1. Waseem SH, Idrees MT, Croffie JM (2015). "Neuroenteric Staining as a Tool in the Evaluation of Pediatric Motility Disorders". Curr Gastroenterol Rep. 17 (8): 30. doi:10.1007/s11894-015-0456-y. PMID 26143629.
  2. Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean L, Bird TD, Ledbetter N, Mefford HC, Smith R, Stephens K, Parisi MA. PMID 20301612. Vancouver style error: initials (help); Missing or empty |title= (help)
  3. "RET ret proto-oncogene [Homo sapiens (human)] - Gene - NCBI".



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