Is Hirschsprung's disease hereditary?

The occurrence of neonatal congenital megacolon is related to genetic factors, but not all cases are directly caused by genetics. This disease is mainly a congenital disease in which part of the colon cannot move normally due to abnormal development of intestinal nerves.

The cause of Hirschsprung's disease is mainly caused by gene mutations, which often involve genes related to neurodevelopment such as the RET gene. This mutation may be inherited from the family or may be a new mutation in the child. If there are similar cases in the family, the child's risk of disease may increase, but there are also many cases without a family history. The incidence of this disease in men is higher than that in women.

When a newborn baby is diagnosed with this disease, they usually show symptoms such as delayed meconium discharge, abdominal distension, vomiting, etc., and in severe cases, they may even cause intestinal obstruction or enteritis. If the above symptoms are found, the child should be taken to the hospital as soon as possible for a detailed examination, such as barium enema X-ray examination and biopsy. Early diagnosis and early treatment are particularly important. Surgery is the main treatment method. By removing the diseased non-ganglionic intestinal segment, the quality of life of the child can be significantly improved.

For families with a family history of disease, they can consult a genetics expert before planning a pregnancy to assess possible genetic risks. During pregnancy, if there is a clear family history of disease, prenatal diagnosis or genetic testing may provide some help. If the child is diagnosed, parents should not be overly anxious, seek medical treatment as soon as possible, and pay attention to postoperative care and nutritional conditioning to help the child return to a healthy life.