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An Overview of Hirschsprung Disease


In addition, if the disease runs in the family there is a 50% chance that any of the relatives could inherit this condition, whereas in a non-family case there is a 15-20% probability. Unluckily, 20% of Hirschsprung condition occurs in various members of the same family. Moreover, for a family that gave birth to a child with this type of condition it is very possible that another future baby inherit it also. The rest 80% happens to people who had no family history with this condition. Hirschsprung disease has two types of illnesses, called long and short segments. The long segment is the most dangerous one, because is when the nerves are missing from the majority or every part of the large intestine. It affects around 20% of the population in the United States at the same rate for men and women. Short segment illness is the most popular one, 80% of Hirschsprung disease individuals have it, but for unidentified reasons it affects men four times more than woman.
             To explain, Hirschsprung disease occurs when the fetus is developing. Unfortunately, the cause is still unknown for at least half of patients with this type of condition. Some of the possibilities can be that the nerve cell development fails, cell migration failure or a stoppage in a nerve cell development in a bowel section. Another very important cause is genetics, the disease has been related with DNA irregularities, since 10% of kids with the Hirschsprung illness have Down syndrome. The most popular genetic cause for Hirschsprung disease is an alteration in the RET gene. This gene has a very important task of creating protein, this protein is essential for a good development of many different types of cells, without a good amount of protein entering the enteric nerve cells, the cells are not able to function correctly which will not allow the colon to move stool normally causing fecal material obstruction. To add up, it is also possible that this extraneous disease occurs in children with other varieties of syndromes on the automatic nervous system like the Waardenburg syndrome, congenital deafness, hypoventilation syndrome, loss of pigmentation and also facial defects.


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