Is Hirschsprung's disease a chromosomal problem?

Hirschsprung's disease is a common congenital malformation, which may be caused by chromosomal abnormalities, or may not be caused by chromosomal abnormalities, but by other factors, such as abnormal embryonic development and abnormal intestinal microenvironment. The specific analysis is as follows:

1. Yes: Related studies have shown that the occurrence of this disease may be directly related to the long arm gene of chromosome 10 and the endothelin-B receptor gene, and that 3.6% to 7.8% of people with Hirschsprung's disease have a family history, indicating that genetic factors caused by chromosomal abnormalities are one of the causes of the disease.

2. No: In addition to genetic factors, abnormal embryonic development and abnormal intestinal microenvironment can also lead to the disease. Abnormal embryonic development is more common in the 6th to 12th week of embryonic development. Due to abnormal intestinal nerve migration and development, defects in nerves or cells in the rectum, sigmoid colon and other parts occur, resulting in continuous spasm of the intestine. Abnormal intestinal microenvironment mainly refers to changes in the microenvironment in the intestine. For example, abnormalities in nerve cell adhesion factors, nerve growth factors, etc. will increase the occurrence of congenital megacolon.

The prognosis of congenital megacolon is good. Most patients can basically return to normal after timely diagnosis and treatment.