What is Hirschsprung disease?

The work of the intestines consists of contractions and relaxations similar to the movements of a worm. Various diseases occur when these movements, also called peristaltic movements, do not work as they should. One of these, Hirschsprung disease, occurs in the absence of ganglia that allow the intestines to relax.


What is Hirschsprung disease?

The partial or complete absence of ganglia responsible for peristaltic movements in the intestines due to genetic reasons is defined as Hirschsprung’s disease. Generally, the formation of the disease is observed in the parts of the large intestine close to the anus. Since the ganglia that allow the bowel to relax are not present in the intestine, the intestine remains contracted and this leads to blockages. Due to the contraction that occurs, stool cannot continue its normal progress through the intestine. This situation causes thickening and enlargement of the intestine in the part where the contraction occurs. Approximately one out of every 5,000 healthy births has Hirschsprung disease. The probability of the disease is 4 times more in men than in women. The diagnosis of the disease is made with a high rate immediately after birth, that is, in the first infancy. Studies have shown that most of the individuals with the disease have Down syndrome. Although Hirschsprung’s disease is thought to be a genetic disorder, it has not been determined exactly for what reasons it occurs.


What are the symptoms of Hirschsprung disease?

Since Hirschsprung disease occurs in the intestines, its incidence is quite high with some other diseases and syndromes. However, the most prominent symptom is constipation. Medications used for constipation do not show any positive effects on the baby at this stage. In addition, some individuals may also experience vomiting with fever of unknown origin. Failure of the stool to progress in the stiffened part of the intestine causes the region to be strained. The length of this region plays an important role in determining the severity and severity of constipation. The longer the stiff bowel, the sooner the symptoms will manifest themselves. Newborn babies make their first defecation in about a day. If this defecation lasted longer than 48 hours, the first disease to come to mind is Hirschsprung’s disease. Babies’ belly is quite swollen during this process and may remind of an inverted frog’s belly. Compared to the growth and development speed of healthy babies, the growth is very slow in babies with this disease. Hirschsprung disease can also cause inflammation of the small intestine in some cases. This condition is also called Hirschsprung-associated intercolitis and is the most common complication of the disease. Hirschsprung-associated intercoholitis is manifested by severe constipation as well as high fever, abdominal distension, lethargy and vomiting. If left untreated and severe, a common and life-threatening sepsis picture can be seen. It can also lead to another complication, toxic megacolon, if left untreated for longer periods of time. Almost all Hirschsprung disease diagnoses are made up to the age of 1 year. The remaining small part is diagnosed in early childhood. Studies have shown that almost all of these patients experience constipation throughout their lives.



What are the causes of Hirschsprung disease?

Hirschsprung disease generally begins to occur during the baby’s development in the womb. The main reason for this is that during the early development phase of the baby in the womb, the nerve cells cannot fully complete by stopping their development towards the last part of the intestines. Nerve cells surround the intestine from beginning to end. However, in case of insufficient development, cells cannot reach the last part of the intestines and Hirschsprung disease occurs. It has been suggested by scientists that many genetic defects originating from the mother or father may trigger Hirschsprung disease. Approximately half of the individuals affected by the disease have one or more of the gene abnormalities originating from the mother or father. The individual may be susceptible to some diseases due to their own gene map, and when this predisposition is combined with various environmental factors, the likelihood of the occurrence of the disease increases. When the abnormal genes found in the parents of the individual combine on the child, different effects may also occur. This means that even if the mother and father are not sick, the child may be sick. The size of the bowel affected by Hirschsprung disease can vary. However, in most babies with the disease, it has been observed that problems intensify in the parts close to the anus, namely the area called the rectum. Although it is rarely seen, ganglion cells may be deficient in the entire large intestine. This is called total intestinal aganglionosis. In today’s medical science, no test has been developed by which Hirschsprung disease can be diagnosed in the womb. The most effective study currently conducted is to investigate whether there is an effect on the pregnancy and health history of the mother that could reveal Hirschsprung disease.


How is Hirschsprung’s disease diagnosed?

Intestinal film is the most important method for making a definitive diagnosis in babies with symptoms of Hirschsprung disease. Medical imaging technique, known as intestinal film, is also called colon radiography and it is aimed to visualize the intestine by giving diluted barium from the anus to the inside of the large intestine. When the drug is given to the intestine, the enlarged and contracted intestine parts are detected and the final diagnosis of the disease is made. Apart from this, the diagnosis of the disease can be provided by the rectal biopsy method. In this method, a full section is taken from the intestine by entering 2 cm from the anus. The section taken is examined in the laboratory environment and the presence of ganglion cells in the intestine is diagnosed. In addition, a manometric study can be performed to diagnose the disease. In this study, the reaction to the stimuli given to the intestines is measured with a special method. The contraction and relaxation movements of the intestine are monitored with the warnings given. The diagnosis can be made clearly because the section where the disease is located will react to the stimuli continuously. Unlike these, some different anomalies can be seen in Hirschsprung patients. It is possible that these anomalies are due to genetic factors. In this way, individuals with more than one anomaly should be examined by a specialist physician in order to identify the underlying cause.


What are the treatment methods for Hirschsprung disease?

Like many other diseases, Hirschsprung disease affects infancy and childhood patients more seriously than other individuals. If the necessary treatments are not applied, the disease can result in death. Surgical methods are used in the treatment of the disease. Tensile surgery and ostomy surgery are the most effective surgical treatment methods. In the pulling method, the surgeon removes the diseased part of the large intestine and connects the remaining healthy part of the intestine to the anus and terminates the surgical procedure. Ostomy surgery is used in babies who are not ready for pulling method yet. In this method, feces are expelled from the inner part of the abdomen before reaching the unhealthy part of the intestine. Since the formed stool leaves the body without coming to the diseased intestine, the feces accumulating in the diseased area over time are also thrown out of the body. An ostomy bag is tied to the outside of the opening to accumulate the feces thrown out of the abdomen. Although ostomy is a temporary treatment method, when the stool in the diseased part is thrown out of the body, the treatment is terminated by pulling out surgery. After most surgical operations, the individual can lead a healthy and normal life. In some individuals, the treatment may need to be continued for a while. In a small number of patients, the pull-out surgery may need to be repeated. In such cases, the intestine is expected to be ready for a new surgery, and surgery is performed again at the appropriate time. The slow growth caused by the disease improves after surgery and returns to normal. Abdominal swelling also improves over time. Problems such as diarrhea, constipation or urinary incontinence can be seen in some sick children after surgery. During the entire treatment period, enteral and parenteral nutritional support should be used if it is deemed necessary to fully meet the energy and nutrients needed in infants and children, especially in the growth and development period.

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