Cystic Fibrosis

Cystic FibrosisCystic fibrosis is a rare congenital disease of some glands that do not function properly. Another name of this disease is cystic fibrosis of pancreas, which is called because abnormalities of the pancreas cause some of the major problems. For example, pancreas stops producing enzymes.

Pancreatic enzymes normally participate in the process of digestion of proteins, carbohydrates and fat in the small intestine, degrading them into simpler substances that are then absorbed into the bloodstream. Because of this, the food is poorly degraded (by the action of a small number of enzymes that are produced in the walls of small intestine) and comes out of the body with nonabsorbed fats and nutrients (see malabsorption). Cystic fibrosis is also manifested by the disturbed function of the gland in the bronchial mucosa. Instead of producing a normal, rare mucus that stops germs and then cough up, the bronchial glands create a thick, sticky mucus that usually stays in the bronchi. Microbes can rapidly multiply in the airways where the mucus is and cause severe respiratory infections, e.g. pneumonia.
Other glands may also be affected (type and number vary from case to case), although usually without serious consequences.

Symptoms

Symptoms sometimes occur immediately after birth. Because of the secretion of mucus in the intestine of the newborn baby, the first stools are too dense and sticky.
In all cases, the baby is not gaining enough weight because there is virtually no absorption of nutrients from food. The content of intestines come out of the child’s body as a abundant, pale stool fat that looks greasy and smells unpleasantly. A child often has respiratory infections accompanied by cough and temperature, and this is usually stronger and lasts longer than normal.

Frequency

Approximately one in 1500 children are born with cystic fibrosis, which is usually inherited.

Dangers

Repeated pneumonia is common and often leads to bronchiectasis that causes lungs to become more susceptible to pneumonia. Eventually, the disease may end in death. Although modern treatment has improved the chances of many children, a large percentage of them dies before adulthood.

What to do?

If you know that cystic fibrosis occurs in your family, you need to examine the first stools of your infant to find out if he/she is suffering from the disease. If the disease is already diagnosed, early treatment can reduce the number of respiratory infections, relieve lung damage, and extend the child’s life span. When a child has abnormal stools and does not gain weight shortly after birth, the doctor will monitor the symptoms. However, in some cases, when respiratory infections are a major feature of the disease and occur only a few weeks after birth, you will be the first person to discover that something is wrong and then you should contact your doctor immediately. In that case, the hospital examination will confirm the diagnosis.

In spite of development deficiencies and absence from school, parents are advised not to exaggerate in child’s protection, but to encourage it to have an active life.
If cystic fibrosis in your family is inherited, and you are planning an offspring, or want another child but you already have one with that disease, you must go to the genetic counseling center that your doctor will refer you to.

Treatment

Extracts of animal pancreas are given as a replacement for pancreatic enzymes that are not produced naturally. The amount of fat in the baby’s diet is reduced. With such treatment the child will gain weight and the stool will have a more normal appearance.
In order to release the musuc from the lungs as much as possible, the child must be subjected daily to a physical therapy that drains the mucus in a certain position of the body (see bronchiectasis). This therapy can be done at home, and the physiotherapist will show you how to do it. Respiratory infections are treated with high doses of antibiotics which, in severe cases, are given in the form of aerosol inhalation so that they can directly affect the lungs.