What is the cause of Hirschsprung's disease?

The main cause of Hirschsprung's disease is the abnormal development of ganglion cells in the intestine. This is a congenital disease that is common in newborns and usually involves genetic factors, physiological factors, and pathological changes during fetal development. The disease causes a lack of ganglion cells in some areas of the colon, which limits intestinal function and causes intestinal obstruction.

1. Genetic factors

Hirschsprung's disease is closely related to heredity, the most common of which is the mutation or deletion of certain genes, such as the RET gene. The RET gene is responsible for encoding a type of protein required for neural development, and its abnormality will cause the intestinal ganglion cells to fail to generate or migrate normally. This gene abnormality may be autosomal dominant or recessive, and often occurs in individuals with a family history of the disease.

2 Environmental factors

Although Hirschsprung's disease is primarily a genetic disease, some external factors may indirectly increase the risk. Maternal infection, exposure to harmful chemicals or drugs, and malnutrition during pregnancy may have adverse effects on the developing nervous system of the fetus. These environmental factors may increase the probability of abnormalities in the fetal intestinal ganglion cells.

3 Physiological factors

During fetal development, normal intestinal ganglion cells need to migrate from the neural crest to the digestive tract. If these nerve cells fail to complete migration or differentiation as expected at a certain stage of pregnancy, some intestinal segments will have no functional nerve innervation. This defect directly leads to intestinal peristalsis dysfunction, intestinal stenosis and even intestinal obstruction.

4 Pathological factors

The lesions are usually concentrated in the rectum or sigmoid colon near the anus. The length of the lesion area can vary, involving short or long megacolon segments, and the severity of the dysfunction varies from person to person. Children may experience symptoms such as delayed meconium discharge, abdominal distension, and vomiting within a few days after birth. In severe cases, they may be accompanied by intestinal infection or toxic colitis.

Treatment recommendations:

1. Drug treatment: Before and after diagnosis, intestinal conditioning drugs can be used to relieve symptoms, such as lactulose to help defecation, but it cannot be a fundamental cure.

2. Rectal tube venting or enema: This is an auxiliary measure to relieve the symptoms of intestinal obstruction in the short term and is suitable for patients with milder conditions.

3. Surgical treatment: Surgical resection of the diseased intestinal segment is the main method for treating congenital megacolon, including Swenson procedure, Duhamel procedure and Soave procedure. The specific applicability of each procedure depends on the extent of the lesion and the overall condition of the child.

If a newborn experiences delayed meconium, abdominal distension or vomiting, early medical attention, clear diagnosis and treatment are essential to alleviating the condition and improving quality of life.