What are Hirschsprung's disease symptoms?

Hirschsprung's disease is a disease in which part of the colon lacks autonomic ganglion cells due to abnormal development of the enteric nervous system. Its main symptoms include persistent constipation, abdominal distension, and vomiting in the neonatal period. If similar symptoms occur, you should seek medical attention early and be diagnosed and treated by a professional doctor, including surgical intervention.

1 Causes of disease

The causes of Hirschsprung's disease involve both genetics and developmental abnormalities.

Genetic factors: Some patients with Hirschsprung's disease have a genetic background, especially in individuals with a family history. Certain genes, such as mutations in the RET gene, can directly affect the normal development of the enteric nervous system.

Environmental factors: Although the direct environmental factors have not yet been fully clarified, the nutritional status of the fetus in the mother, maternal infection, etc. may affect fetal development and interfere with the formation of ganglion cells.

Physiological factors: The core mechanism of the disease is the lack of ganglion cells in a part of the intestine, which causes this part of the intestine to be unable to produce normal peristaltic function, making it difficult for food or feces to pass through, and then causing symptoms.

Pathological effects: Hirschsprung's disease without timely intervention may lead to intestinal obstruction, and in severe cases may also cause intestinal wall necrosis or sepsis.

2 Main symptoms

In the neonatal period, patients often show delayed defecation or only excrete a small amount of meconium.

Gradually develop into frequent abdominal distension and vomiting, which worsens after eating.

If not treated promptly in childhood, it often manifests as persistent severe constipation, combined with repeated abdominal distension, which can lead to low weight and slow growth and development.

In more serious cases, enteritis may occur, resulting in fever, intestinal leakage and poisoning, which may be life-threatening.

3 Treatment methods

Currently, the main treatment for Hirschsprung's disease is surgery.

Surgical treatment:

Bowel resection: Removal of the segment of intestine that lacks ganglion cells to restore normal bowel function.

In some severe cases, doctors may initially choose to place an ostomy to relieve acute symptoms and then perform radical surgery after the patient's condition stabilizes.

Straightening: Reshaping and connecting the intestines to ensure smooth passage of food and stool.

Dietary regulation: After surgery, patients need to pay attention to their diet and consume more high-fiber foods, such as green leafy vegetables, oats, etc., to help the intestines return to normal function.

Long-term follow-up: Postoperative patients may still need to adjust their daily bowel habits, use laxatives if necessary, and regularly monitor intestinal function and nutrient absorption.

Early detection of Hirschsprung's disease and prompt treatment can significantly improve the prognosis. If a newborn or child shows unexplained long-term abdominal distension or constipation, it is important to seek medical attention as soon as possible to rule out the possibility of intestinal developmental abnormalities. With surgical correction and subsequent medical management, most patients can have a normal quality of life.