Hirschsprung's disease (HSCR) is characterized by the absence of particular nerve cells (ganglions) in a segment of the bowel. The absence of ganglion cells causes the muscles to lose their ability to move the stool through the intestine (peristalsis). Constipation occurs and obstruction of the colon becomes more obvious and perhaps painful. HSCR can occur as an isolated problem or as part of disorder that affects multiple organ systems.
Symptoms of HSCR in the newborn period include failure to pass the meconium within a short time after birth, failure to pass a first stool for 24-48 hours, watery diarrhea and vomiting of green bile. Within a few days there may be signs of constipation, watery diarrhea and possible bacterial toxin production, abdominal swelling (distension), poor weight gain and slow growth.
Initial diagnosis of HSCR is frequently made later in childhood or in adulthood. These individuals often report a lifelong history of constipation.
HSCR that occurs as an isolated problem has been associated with mutations in at least six different genes. Approximately 50% of affected individuals have one of these gene abnormalities. Inheritance can be dominant or recessive depending on the gene involved, but it is probably necessary for multiple abnormal genes to be present for the disorder to occur. The abnormal genes involved in HSCR can have different effects in members of the same family.
The genes associated with HSCR are in two major groups called RET genes and EDNRB genes. When HRSC involves a short segment of the colon, the major gene involved is the RET gene located on chromosome 10q11.2.
When HSCR occurs along with other abnormalities, the cause is frequently a chromosome abnormality or genetic syndrome.
Hirschsprung’s Disease affects males more often then females. It occurs in approximately one in five thousand live births. It is usually apparent at birth but may also develop in older children and adults. Hirschsprung’s Disease should be considered in people with a history of severe constipation.
Most cases (85-90%) of HSCR are diagnosed in early infancy. The first symptom is usually failure to pass the first bowel movement (meconium). The preferred diagnostic test for HSCR is a suction biopsy of the rectum. Absence of ganglion cells confirms the diagnosis.
Molecular genetic testing for the RET gene is available, but testing for the other genes associated with HSCR is available on a research basis only.
When other abnormalities are present in addition to HSCR, it is possible that the HSCR is due to a chromosomal abnormality or genetic syndrome. Individuals with multiple anomalies should be evaluated by a clinical geneticist in order to attempt to establish an underlying diagnosis.
In almost all cases, treatment of HSCR requires surgery to remove the part of the colon and/or rectum that lacks the normal nerve development, and to join the two healthy ends together. There are three standard surgical procedures designed to correct this disorder. The choice of procedure is a function of the training and experience of the surgeon. Each procedure removes the affected part and attaches the healthy part of the bowel to the rectum completing what is known as a "pull-through" procedure.
If the child is very, very young (perhaps less than 6 months) or if he/she is critically ill the surgeon may advise the parents to permit a temporary colostomy in which the diseased part of the colon is removed and the healthy end brought to the surface of the abdomen (stoma). Through this 'stoma' the contents of the colon and rectum are voided into a special bag and removed. After a time, the "pull through" operation is carried out and the abdominal wall opening is closed.
Genetic counseling may be of benefit for patients and their families.
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