Causes of Hirschsprung's disease

Hirschsprung's disease is a congenital disease caused by abnormal development of the colon nerves, which often results in the inability of the baby to defecate normally after birth. The main causes include genetic factors, abnormal development of neural crest cells during the fetal period, and loss of colon ganglion cells. It may be affected by the following aspects:

1. Genetic factors:

The occurrence of Hirschsprung's disease is related to family inheritance, especially when there is a similar medical history in the family, the risk of disease increases significantly. Studies have shown that certain gene mutations, such as RET gene mutations, may affect the normal development of ganglion cells, leading to ganglion cell loss and thus causing the disease.

2. Abnormal development of neural crest cells during fetal period:

During fetal development, the normal migration of neural crest cells to the colon is key to ensuring the normal development of the digestive tract nervous system. However, in some fetuses, due to environmental disturbances or genetic defects during development, neural crest cells may not be normally distributed in the colon, resulting in the formation of a ganglionless intestine.

3. Interference from environmental factors:

Although genetic factors are the main cause, environmental exposure during pregnancy may also be involved in the occurrence of the disease. For example, pregnant women’s exposure to toxic chemicals, viral infection, and long-term mental stress may affect the fetal neurodevelopment.

4. Related pathological changes:

The aganglionic areas of patients with Hirschsprung's disease are unable to effectively push the intestinal contents, causing the intestine to expand and fill with feces, thus forming the megacolon phenomenon. This pathological change usually manifests itself in symptoms such as difficulty defecating and abdominal distension a few days after birth.

Surgery is currently the main treatment method:

1. Surgical treatment: The most common method is to remove the intestinal segment without ganglia and then connect the normal intestinal segment such as Soave operation or Swenson operation.

2. Temporary anus stoma: For younger or seriously ill infants, temporary anus stoma is performed first to protect the body's metabolic capacity, and radical surgery is performed when appropriate.

3. Dietary adjustment: During the postoperative recovery period, you can reduce intestinal irritation through breastfeeding or hypoallergenic formula milk.

As a congenital disease, Hirschsprung's disease requires early detection and active treatment to effectively improve the quality of life of the child. If a newborn is found to have persistent abdominal distension, vomiting, abnormal bowel movements, etc., he should seek medical attention in time to avoid delaying treatment and affecting prognosis.