Hirschsprung disease is a congenital disorder. That is, when the baby is developing in the womb, the nerve cells do not develop through the full length of the bowel (Elhalaby, Coran and Blane 77). The disease has been termed as one of the rarest disorders of the bowels. In a normal person, the muscles that are located in the bowel squeeze rhythmically to push the feces through the rectum. In the Hirschsprung case the nerves or the ganglion cells that control the muscles are not present, and therefore, the feces cannot be pushed through a human being bowel in the normal way. The length of the affected portion varies from one person to the other (Elhalaby, Coran and Blane 78).
Statistics on the disease
Incidences of this disease varies from 1 for every 5,000 to 1 for every 10,000 births. The male preponderance for the disease has a ratio of 3:1 to 5:1 (Rudolph and Benaroch 6). Hirschsprung disease seems to be more prevalent in males than in females. The disease affects all the races, the age at which the disease is diagnosed has decreased significantly (Rudolph and Benaroch 6).
In many cases the people who have the disease have problems with DNA; experts contend that this may be a predisposing factor. Hirschsprung is a genetic disease and its risks greatly increase in the close family members (Elhalaby, Coran and Blane 77). The ongoing studies in the model systems contend that, some of the environmental factors and the maternal health issues can affect the risks of the diseases in the young children (Elhalaby, Coran and Blane 77).
There are three nerves plexuses that are found in the intestine, namely; the sub mucosal plexus, myetenric plexus and the small mucosal plexus (Hung, Chiang and Sai 364). The plexus is significant in aiding the bowel functions, including the absorptions, secretion and motility. The normal motility is controlled by the intrinsic neurons. For the patients who have the Hirschsprung disease, the myenteric and the sub mucosal plexus are missing; this affects the anus (Hung, Chiang and Sai 364). The angaglionosis goes on a for a distance, the absence of the enteric nervous system reflexes leads to an overwhelming extrinsic control of the intestinal smooth muscle (Hung, Chiang and Sai 365).
Signs and symptoms
In most cases, the babies that have the disease are not able to pass meconium-the dark feces passed in the first two days of life (Elhalaby, Coran and Blane 77). Other symptoms can include swollen abdomen plus the vomiting of green bile. After some few days, the main symptom of this disease is constipation that cannot be treated with laxatives or softeners (Elhalaby, Coran and Blane 77). The reason this happens is because, the feces are pushed through the bowel until they reach the part that has been affected. Because this part of the bowel is not able to push rhythmically, the feces cannot move further, the bowel is blocked resulting in discomfort and a swollen abdomen (Elhalaby, Coran and Blane 78).
The disease is diagnosed by taking a small piece of tissue from the bowels for the purpose of examination under a microscope (Rudolph and Benaroch 8). This process is called a rectal biopsy; if this piece of tissues does not contain the ganglion cells then the disease is confirmed. The process of obtaining the biopsies is a risky process and therefore, other methods like the anorectic manometry and barium enema are used in the selection of the patients that require a biopsy (Rudolph and Benaroch 8).
The method of treatment for the disorder depends on the age at which the child who has the disease is diagnosed and how the child is generally. In some children, constipation can be helped by the process of a bowel washout. A thin tube is put inside the child’s bottom; it is then filled with a solution that contains salty water (Elhalaby, Coran and Blane 78). All children who have the disease needs an operation, if the baby is a newborn, the doctor may suggest a pull through operation. When a child is older, or for any other reasons, the doctor may suggest the creation of an artificial opening commonly referred to as a stoma for the purpose of removing the feces (Elhalaby, Coran and Blane 79). This is significant because it allows the child health to significantly improve before the pull through operation is done. In most cases, the stoma is used as a temporary measure; it is closed after the child is taken to the operation.
During the operation the surgeon brings the healthy end of an artificial opening that is known as the stoma (Elhalaby, Coran and Blane 78). The feces can be pushed through the bowel to the stoma where they are collected by using a bag and then disposed later. In the pull through operation, the doctor removes the bowel that does not have the ganglion cells and attach the healthy end to the bottom that has enough cells for the purpose of controlling the muscle. Regular pain relieving medications are given after surgery through a drip, when the child is more comfortable he/she is given medicines to swallow (Elhalaby, Coran and Blane 79). Children are given fluids after surgery until they feel comfortable to eat again. The reason it is not advisable to give the child solid food is because the bowel needs to rest and start healing. A gently anal stretch is needed, one week after the operation.
Reports of long term outcomes after treatment are often conflicted. Some experts have reported high levels of satisfaction, while others contend that there is a significant incidence of constipation and incontinence (Elhalaby, Coran and Blane 79). In a general perspective more than 90% of patients who have the disease have reported satisfactory outcomes, however, it has been confirmed that many patients still have bowel disturbances after surgery for very many years. It has been reported that 1% of patients who have the disease have debilitating incontinence that needs a permanent colostomy (Elhalaby, Coran and Blane 78). The overall colonic angaglionosis is linked with a poorer outcome. 33% of the patients who go through this procedure experience persistsent incontinence, 14% of these patients require a permanent ileostomy. The patients that have abnormalities with their chromosomes and syndromes have poor clinical outcomes.
It is not possible to prevent the disease; however, the utilization of the perceptive clinical acumen can help in preventing the delays in diagnosis.
The potential complications of the complex operations that are linked with the disease involve the whole spectrum of the surgical complications. The most common complications include enterocolitis, constipation and diarrhea after the pull through procedures. The most prevalent complications are the anastomotic leakage, wound infection after the surgery. The patients may also develop the enterostomal complications, for example, prolapsed and herniation (Elhalaby, Coran and Blane 82). It enterocolitis has been termed as the causal factor for the high morbidity and mortality in patients who have Hirschsprung disease. The progress of the disease often results in the intestinal lumen filing with the fibrinous exudates; this increases the risk of perforations.
Elhalaby, E. A, et al. “Enterocolitis associated with Hirshsprung disease: A Clinical radiological characterization based on 168 patients.” J Pediatr surg (2014): 76-83.
Hung, WT, TP Chiang and YW Sai. “Adult Hirschsprung disease.” J Pediatr Surg (2012): 363-366.
Rudolph, C and L Benaroch. “Hirshsprung Disease.” Ped in rev (2013): 5-11.