Hirschsprung's disease historical perspective: Difference between revisions

Jump to navigation Jump to search
No edit summary
Line 4: Line 4:


==Overview==
==Overview==
In 1886, [[Harald Hirschsprung]] described the 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 [[mutation|dominant mutations]] in this [[gene]] may lead to loss of function in [[genetic code|encoded]] protein, facilitating the development of the disease.
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 [[mutation|dominant mutations]] in this [[gene]] may lead to loss of function in the [[genetic code|encoded]] protein, leading to development of the disease.


==Historical Perspective==
==Historical Perspective==
*In 1886, [[Denmark|Danish]] [[physician]] Harald Hirschsprung 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, [[Denmark|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 (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 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; it was determined that possible [[mutation|dominant mutations]] within this [[gene]] may lead to the loss of function in [[genetic code|encoded]] protein and cause the disease.
*In 2002, the [[RET proto-oncogene]] on [[chromosome 10]] was identified; it was determined that possible [[mutation|dominant mutations]] within this [[gene]] may lead to the loss of function in the [[genetic code|encoded]] protein and cause the disease.


==References==
==References==
{{WH}}
{{WH}}
{{WS}}
{{WS}}

Revision as of 14:07, 4 August 2017

Hirschsprung's disease Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Hirschsprung's Disease from other Diseases

Epidemiology and Demographics

Risk factors

Screening

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Laboratory findings

Electrocardiogram

X-ray

CT

MRI

Echocardiography or Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary prevention

Secondary prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Hirschsprung's disease historical perspective On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Hirschsprung's disease historical perspective

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Hirschsprung's disease historical perspective

CDC on Hirschsprung's disease historical perspective

Hirschsprung's disease historical perspective in the news

Blogs on Hirschsprung's disease historical perspective

Directions to Hospitals Treating Hirschsprung's disease

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 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.

References

Template:WH Template:WS