Hirschsprung’s Disease

Hirschsprung’s Disease (congenital aganglionic megacolon or HD) is a birth or congenital defect, occurring in the fetus during the early stages of pregnancy. Nerve cells located in the colon or large intestine do not develop. (Normally, fifth until the twelfth week of pregnancy, while the fetus is growing and developing, nerve cells form in the digestive tract, beginning in the mouth and finishing in the anus) These nerves cells, called ganglion cells, control the muscles of the colon that push food and digested waste through the large intestine. The symptom related to Hirschsprung disease, muscles in the wall of the colon do not contract properly, preventing waste from moving through the colon. Consequently, this leads to trapped stool, infection, inflammation (Enterocolitis: Inflammation of the small and large intestine.), and constipation. The condition usually affects the last one to two feet of the colon that ends with the rectum. This disease first discovered in 1886, by Dr. Herald Hirschsprung describing two infants, who had died with swollen bellies. One in five thousand children suffer from Hirschsprung’s disease. Four times as many males get this disease than females. Infants having symptoms of this disease are not able to have their first bowel movement (meconium) within 48 hours of birth and repeated vomiting (Throwing up a green liquid called bile after eating). Some infants develop swollen abdomen, and constipation. Common is poor weight gain and slow growth in children. Also, when a child is born with Hirschsprung’s disease, there is a three to fifty percent chance any sibling born, will inherit this disease. Treatment is available for this disease by surgery only. Hirschsprung’s disease is listed as a rare disease, by the office of Rare Disease of the National Institute of Health.

Two-thirds of Hirschsprung’s disease diagnosed within three months of birth. Approximately ten percent of children born with Down syndrome, (Most common genetic pattern of malformation. Characteristics involve low muscle tone, flat appearance of the face, upward slanting eye creases, small ears, single skin crease in the palm, extremely flexible joints, large tongue and additional features.) develop this disease. Two-thirds of these children will be incontinence or have severe constipation. Occasionally symptoms do not appear until early adulthood or adults are diagnosed with variation of this disease. Confirmation of this disease, having an barium enema or lower gastrointestinal series (procedure examining and diagnose problems with large intestine. After rectal instillation of barium sulfate, an X-ray examination of the large intestines will verify or disprove, upon examination of pictures taken). Confirmation, Hirschsprung disease through a rectal biopsy, showing a lack of ganglion cells. A Pediatric Surgeon or Pediatric GI doctor would perform this procedure. Prenatal diagnosis is not available.

In August 1993, two articles by independent groups in ‘Nature Genetics’ said that Hirschsprung’s disease caused by a single gene. (Chromosome ten is one of the 23 chromosomes in humans (DNA). People normally have two copies of this chromosome. Chromosomes ten likely contains between 800 – 1,200 genes. One of these genes is defective.) In 2002, researchers discovered two mutated genes (RET and EDNRB) have to coexist in order for a child to get Hirschsrpung’s disease. However, inconclusively six other genes have shown an effect on this disease, but unable to determine how these genes interact with RET and EDNRB. In 2004, researchers suggested there are ten genes associated with Hirschsprung’s disease.

Treatment for Hirschsrpung’s disease: surgical procedures. During the first stage, a colostomy is performed, whereby the large intestines is cut and an opening is made through the abdomen. This allows content of bowl to be discharged into a collection bag. Later, when the child reaches 9 – 12 months, and weights approximately 20 pounds and conditions are acceptable, surgical pull through procedure is performed. This procedure repairs the colon by connecting the functioning portion of the bowel to the anus (external opening of the rectum, where defection function occurs). This surgical procedure has been modified over the past many years. There are five different pull-through procedures, which is effective treating this disorder. The operation requires 1 – 3 days in the hospital. During the operation, no need for a colostomy, in most cases, unless extremely long segment of abnormal bowl or serious infection is present. Eighty-Five percent of patients after undergoing a pull-through procedure live normal lives, and fifteen percent require taking a laxative for the rest of their lives. When Hirschsprung disease begins in the small intestine, makes treatment harder. Alternatively, if the doctor decides to remove the entire large intestines and connects the small intestine to the stoma, procedure called an ileostomy. Intestinal waste passes out of the ileostomy and is collected in an external bag stuck in the skin. The procedure is usually sited above the groin on the right hand side of the abdomen. Available are less invasive laparoscopic surgical techniques, offer a shorter recovery time. Mortality rate is twenty percent related to surgical complications (Includes puncturing the wall of the intestine or intestinal perforation) or later from enterocolitis (infection of the large or small intestine).

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