What is Hirschsprung disease?

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

What is Hirschsprung's disease?
Partial or complete absence of ganglia responsible for peristaltic movements in the intestines due to genetic reasons is defined as Hirschsprung's disease. In general, the formation of the disease is observed in the parts of the large intestine close to the anus. Since the ganglia that cause the intestine to relax do not exist in the intestine, the intestine remains and this leads to obstruction. Due to the resulting contraction, the stool cannot continue its normal progression through the intestine. This causes the intestine to thicken and expand in the part where the contraction occurs. Hirschsprung disease is observed in approximately one in every 5,000 healthy births. Males are 4 times more likely to develop disease than females. The diagnosis of the disease is made at a high rate immediately after birth, in the first infancy. Research has shown that most individuals with the disease have Down syndrome. Although Hirschsprung's disease is thought to be a genetic disorder, it has not yet been determined for what reasons it has emerged.
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 obvious finding is constipation. Medicines used for constipation do not show any positive effects on the baby at this stage. In addition, some individuals may have vomiting with fever of unknown origin. Failure of stool to progress in the contracted part of the intestine causes difficulty in the region. The length of this region plays an important role in determining the severity and severity of constipation. The longer the intestine remains, the sooner the findings manifest. Newborn babies make their first defecation in approximately one day. If this defecation period lasted longer than 48 hours, the first disease that comes to mind is Hirschsprung's disease. The tummy of the babies is very swollen in this process, and the upside down frog can recall the abdomen. Compared to the growth and development rate of healthy babies, growth in babies with this disease is very slow. Hirschsprung disease can also lead to inflammation of the small intestine in some cases. This condition is also referred to as Hirschsprung-associated entercholitis and is the most common complication of the disease. Hirschsprung-associated entercholitis is manifested by symptoms of high fever, abdominal distention, numbness and vomiting, as well as severe constipation. If left untreated and severe, a common and life-threatening sepsis picture can be seen. It can also lead to toxic megakolona, ​​another complication if left untreated for longer periods of time. Almost all diagnoses of Hirschsprung disease are made in the period up to 1 year old. A small remaining part is diagnosed in early childhood. Studies have shown that almost all of these patients experience constipation during their lifetime.
What are the causes of Hirschsprung disease?
Hirschsprung disease generally begins to occur during the development of the baby in the womb. The main reason for this is that during the early development phase of the baby in the womb, the nerve cells can not fully complete by stopping the development towards the end of the intestines. Nerve cells surround the intestine from start to finish. However, in case of underdevelopment, cells cannot reach the last part of the intestines and Hirschsprung's disease occurs. It has been suggested by scientists that many genetic defects from mother or father can trigger Hirschsprung's disease. Approximately half of the individuals affected by the disease have one or more of the gene anomalies from the mother or father. The individual may be susceptible to certain diseases due to his own gene map, and when this predisposition combines with various environmental factors, the probability of occurrence of the disease increases. When the abnormal genes found in the parents of the individual combine on the child, it can also produce different effects. This means that the child may be sick even if the mother and father are not sick. The gut size affected by Hirschsprung's disease may vary. However, it has been observed that most of the babies where the disease occurs, problems near the anus, that is, the area called the rectum, are concentrated. Although rare, ganglion cells may be deficient in the entire large intestine. This is called total intestinal aganglionosis. In today's medical science, no test that Hirschsprung's disease can be diagnosed in the womb has not been developed. The most effective study done at the moment is to investigate whether there is an effect in the mother's pregnancy and health history that may reveal Hirschsprung's disease.
How is Hirschsprung disease diagnosed?
The most important method for making definitive diagnosis in babies with Hirschsprung disease symptoms is intestinal film. The medical imaging technique, also known as the intestinal film, is also called colon x-ray and it is aimed to display the intestine by giving a barium diluted from the anus into the large intestine. When the drug is given to the intestine, enlarged and contracted intestinal sections are identified and a definitive diagnosis of the disease is made. Apart from this, the diagnosis of the disease can be provided by rectal biopsy method. In this method, a full section is taken from the intestine by entering about 2 cm from the anus. The section taken is examined in a laboratory environment to determine whether ganglion cells are in the intestine. In addition, manometric study can be done to diagnose the disease. In this study, how to react to stimuli given to the intestines with a special method is measured. With the warnings given, the contraction and relaxation movements of the intestine are monitored. The diagnosis can be made clearly since the section where the disease is located will react continuously to the warnings. Different from these, some different anomalies can be seen in Hirschsprung patients. It is possible that these anomalies depend on genetic factors. In this way, individuals who have more than one anomaly should be examined by a specialist physician in order to identify the underlying cause.
What are the treatment methods of 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 may result in death. Surgical methods are used in the treatment of the disease. Withdrawal surgery and ostomy surgery is the most effective surgical treatment method. 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 ends the surgical procedure. Ostomy surgery is used in infants who are not yet ready for pulling. In this method, the stool is thrown out from the inside of the abdomen before it reaches the unhealthy part of the intestine. Since the stool that is formed leaves the body without going to the intestine, the stool accumulated in the diseased area is also thrown out of the body over time. An ostomy bag is attached to the outside of the opening to accumulate 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 ended by pulling surgery. After most surgical operations, the individual can lead a healthy and normal life. In some individuals, treatment may need to continue for a while. In a small number of patients, repetition surgery may be required. In such cases, the intestine is expected to be ready for a new surgery and surgical intervention is made at the appropriate time. The slowness caused by the disease improves after the operations and returns to normal. Abdominal swelling also improves over time. After the operation, some sick children may experience problems such as diarrhea, constipation or urinary incontinence. During the whole treatment period, enteral and parenteral nutritional supplements should be used, if necessary, to meet the energy and nutrients needed in infants and children who are in the period of growth and development.
If you or your child have symptoms such as constipation, bloating, or fever, you should contact a health institution immediately. Hirschsprung disease is a type of disease that can lead to life-threatening conditions as well as serious complications. For this reason, you can protect the health of yourself or your child and prevent more serious problems that you may encounter in the future by getting help from the nearest health institution so that early diagnosis and treatment can be carried out quickly.

Read the full article