Inheritance in Hirschsprung’s disease
Hirschsprung’s disease is an inherited disease. It is not possible to determine a specific gene as the trigger of the disease. Depending on which gene is affected, the disease is inherited autosomal-dominantly or autosomal-recessively.
Autosomal-dominant means that if the newborn child inherits a diseased gene from one parent, it is automatically ill. In autosomal recessive inheritance, the child needs two diseased genes, i.e. a diseased gene from the mother and a diseased gene from the father, to develop the disease. Consequently, the risk of contracting Hirschsprung’s disease is significantly lower in autosomal recessive inheritance than in autosomal dominant inheritance.
Research has shown that the longer the diseased intestinal segment is, the greater the risk of inheriting the disease from one’s own children. Boys are about four times more likely to be affected by the disease than girls. The disease also occurs more frequently in children with trisomy 21 (Down syndrome). About 12% of children with Down’s syndrome also suffer from Hirschsprung’s disease.
Can Hirschsprung’s disease be cured?
Hirschsprung’s disease is an intestinal disease with a very good prognosis. 80 to 85% of patients with Hirschsprung’s disease are affected only in the rectum and sigmoid loop. Surgical removal of those sections of the intestine that are not equipped with nerve cells is therefore quite easy and, due to the large proportion of remaining colon, subsequent complications are also low.
Most patients have a normal quality of life after this operation and can be considered “cured”. However, about 30% of those affected still suffer from a tendency to constipation and possibly other symptoms, which will be named below. Unfortunately, in 10 to 15% of patients, about half of the colon is affected and in about 5% even the entire colon is affected by Hirschsprung’s disease.
In these so-called “long-distance aganglionoses” (aganglionosis is another technical term for Hirschsprung’s disease), the prognosis is somewhat worse and complications are more frequent. Possible complications are: incontinence, tendency to constipation, formation of scarred constrictions of the bowel, inflammation of the bowel by bacteria. Patients with a long-standing history of Hirschsprung’s disease are then cured of Hirschsprung’s disease, but have to contend with these complications.
