What causes Hirschsprung's disease in infants?

Infantile Hirschsprung's disease is a congenital disease caused by a gene mutation that leads to abnormal development of neural crest cells and loss of intestinal ganglion cells, often manifested as local intestinal stenosis and functional obstruction.

The main cause of this disease is closely related to genetic factors, usually due to mutations in the RET gene, EDNRB gene or SOX10 gene. Abnormalities in these genes hinder the normal migration of neural crest cells and lead to developmental defects in the intestinal ganglia. Environmental factors during pregnancy such as infection, exposure to chemicals or maternal malnutrition may also increase the risk. Among the physiological factors, fetal intestinal maldevelopment, neural pathway disorders or intrinsic hormonal influences may be one of the triggering causes. This type of disease usually manifests as symptoms such as intestinal obstruction, abdominal distension, vomiting, etc. within a few days after birth. If not treated in time, it may cause severe intestinal perforation or sepsis.

The main cause of this disease is closely related to genetic factors, usually due to mutations in the RET gene, EDNRB gene or SOX10 gene. Abnormalities in these genes hinder the normal migration of neural crest cells and lead to developmental defects in the intestinal ganglia. Environmental factors during pregnancy such as infection, exposure to chemicals or maternal malnutrition may also increase the risk. Among the physiological factors, fetal intestinal maldevelopment, neural pathway disorders or intrinsic hormonal influences may be one of the triggering causes. This type of disease usually manifests as symptoms such as intestinal obstruction, abdominal distension, vomiting, etc. within a few days after birth. If not treated in time, it may cause severe intestinal perforation or sepsis.

Early diagnosis is crucial for infantile Hirschsprung's disease. Methods for diagnosis include rectal biopsy, barium enema and abdominal X-ray. Surgery is the main treatment, which requires resection of the diseased intestinal segment with missing ganglia. Common surgical procedures include Swenson's surgery, Soave's surgery and Duhamel's surgery. After surgery, parents need to pay attention to the baby's nutritional supplements and bowel movements, try to avoid adding high-fiber foods, supplement with abdominal massage and develop the habit of regular bowel movements. Regular follow-up visits and observation of intestinal function recovery are also important parts of treatment, which have a significant impact on improving quality of life.