Table of Contents
Is Hirschsprung disease autosomal recessive?
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.
Is Hirschsprung’s hereditary?
Hirschsprung’s disease can be inherited. If you have one child who has the condition, future biological siblings could be at risk. Being male. Hirschsprung’s disease is more common in males.
Can you develop Hirschsprung’s disease?
Hirschsprung’s disease is congenital — that is, it develops during pregnancy and is present at birth. Some congenital conditions happen because of the mother’s diet, or because of an illness they had during their pregnancy. Others are because of genes the parents pass on to the newborn.
What gene causes Hirschsprung’s disease?
Mutations in the RET gene are the most common known genetic cause of Hirschsprung disease. The RET gene provides instructions for producing a protein that is involved in signaling within cells.
How is Hirschsprung’s disease prevented?
Can Hirschsprung’s disease be prevented or avoided? Since the cause of Hirschsprung’s disease is unknown, you cannot prevent or avoid it. However, parents who have the disease can unknowingly pass it on to their children.
How do you rule out Hirschsprung’s disease?
Diagnosis
- Removing a sample of colon tissue for testing (biopsy). This is the surest way to identify Hirschsprung’s disease.
- Abdominal X-ray using a contrast dye.
- Measuring control of the muscles around the rectum (anal manometry).
Can Hirschsprung be cured?
Treatment almost always requires surgery. Fortunately, most children who have surgery are fully cured and able to pass bowel movements (BMs) normally.
What kind of birth defect is Hirschsprung disease?
Hirschsprung disease (HSCR) is a birth defect. This disorder is characterized by the absence of particular nerve cells (ganglions) in a segment of the bowel in an infant. The absence of ganglion cells causes the muscles in the bowels to lose their ability to move stool through the intestine (peristalsis).
How are ganglions affected by Hirschsprung disease?
The neural crest gives to various types of cells in the body. In HSCR, ganglions do not develop properly from the neural crest. Since ganglions are missing from the intestine, stool cannot be pushed through the intestine and out of the body via peristalsis. The length of the intestines that is affected in HSCR can vary.
What is the treatment for Hirschsprung disease ( HSCR )?
HSCR may occur as an isolated finding or as part of a another disorder. Isolated HSCR is associated with mutations in several genes. Treatment is with surgery, removing the aganglionic intestinal segment. [2]
How is HSCR related to a specific syndrome?
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.