What is the main cause of Hirschsprung disease?
While a mutation in a single gene sometimes causes the condition, mutations in multiple genes may be required in some cases. The genetic cause of the condition is unknown in approximately half of affected individuals. Mutations in the RET gene are the most common known genetic cause of Hirschsprung disease.
Is Hirschsprung disease autosomal dominant?
If HSCR occurs as part of a genetic syndrome, then it is inherited in a specific pattern, according to the specific syndrome . For example, the inheritance may be autosomal recessive , autosomal dominant , or X-linked recessive , depending on the exact cause of the syndrome.
Who discovered Hirschsprung disease?
Dr. Harald Hirschsprung (1830-1916), a Danish pediatrician, first described Hirschsprung’s disease or congenital megacolon about one and half century ago.
Does Hirschsprung disease go away?
Hirschsprung’s disease cannot be cured on its own. It can be fatal for children who do not have surgery. After surgery, most children lead normal lives. They may have minor health problems as a result of the disease.
At what age does Hirschsprung disease occur?
About 65 percent of children with Hirschsprung disease are diagnosed by age 6 months, but it is not uncommon for a diagnosis in older children or even occasionally in adults. There are several “classic” symptoms that may suggest a diagnosis of Hirschsprung disease.
What is the pathophysiology of Aganglionic Megacolon?
Hirschsprung disease (HD) is a motor disorder of the gut, which is caused by the failure of neural crest cells (precursors of enteric ganglion cells) to migrate completely during intestinal development during fetal life. The resulting aganglionic segment of the colon fails to relax, causing a functional obstruction.
Do babies with Hirschsprung’s pass gas?
Newborns with Hirschsprung disease may: be unable to pass stool within the first or second day of life. have a swollen belly, bloating, or gas.