Cystic Fibrosis

Cause

Cystic fibrosis is caused by a genetic defect. The child has to get an abnormal gene from both the father and mother to get sick. The father and mother are carriers of the CF gene, without being sick. If both parents are carriers, their children have twenty-five percent chance of getting CF.
Due to the defect, some organs discharge thick and tough mucus. Mucus normally carries waste products, such as inhaled dust particles and bacteria. It also transports digestive substances from the pancreas to the intestines. If the mucus is tough, these functions are in danger. Several organs operate less well. Apart from the lungs, the pancreas and liver may also be affected by the disease. CF is not contagious.

Symptoms

The first problems often arise at young age. The main signs and symptoms are:

• Persistent cough and phlegm.
• Abdominal discomfort.
• Smelly, fatty stools.
• Strong salty sweat.
• Recurrent respiratory infections.
• Poor appetite.
• Growth retardation.

Not all symptoms occur simultaneously. Over the years, the symptoms generally become worse. Due to loss of function of the pancreas, a special type of diabetes may arise.

Diagnosis

The diagnosis of cystic fibrosis is usually made in the first two years of life. If the doctor suspects that the patient has CF, several tests can be done:

• Sweat test. The level of salt in sweat can be determined to check if there is CF. In case of CF, the salt content in sweat of children is much higher than normal.
• DNA test. CF is a hereditary disease. If a DNA test demonstrates that a person has two CF genes, he or she has the disease. If a person has only one gene, he or she is carrier of CF, but is not sick yet.
• Intestinal current measurement. If both the sweat test and the DNA test provide no clear diagnosis, a current measurement in intestinal tissue may be done. This examination measures the potential difference in nasal or rectal mucosa. This is done by inserting a small tube into the nose and by taking a suction biopsy from the rectum.

Treatment

The treatment of CF takes place in three different areas:

• Preventing and combating respiratory infections. This is done with the aid of medication and physical therapy. By inhalation of mucus thinners, there will be tried to keep the lungs clean. If there still is a lung infection, the doctor treats this infection with antibiotics. Using physical therapy, the patient learns special breathing techniques.
• Maintaining general condition. The general condition is important if a person has CF. Therefore, the treatment will also include physical training. This increases the overall resistance of the body. Moreover, the organs and muscles are maintained and mucus can be coughed up better.
• Treatment of digestive disorders and maintaining the diet. Because of infection and the fact that the food is not well absorbed, a high-energy diet is necessary. Daily vitamin pills must also be taken. In the worst case, the patient needs nightly nutrition as well.

Treatment is important for the rest of the patient’s life. In case of severe lung damage, lung transplant is the last solution.

Prognosis

CF is not curable yet. It’s a delibitating disease, because the symptoms are getting more and more severe with age. At this moment, the average life expectancy for patients is about forty years. Life expectancy can vary by patient, because the progression of the disease is different in every person. By intensive (medical) care, the quality of life of CF patients has nowadays greatly improved.

Considerations

In people with CF, the bacterium Pseudomonas aeruginosa (PA) causes most of the respiratory infections. This bacterium lives mainly in a warm, humid environment. For example, in the water well of the shower or bath, the drain of the toilet and the sink, in coughed up phlegm and in dishcloths. But also in lakes and rivers. The following precautions may be wise:

• Leave the tap running for half to a whole minute, before using the water.
• The bacterium doesn’t survive above 70°C and in dry rooms. Therefore, wash dishcloths in the boiling program and leave them hanging out afterwards to dry completely.
• Put a toothbrush away open after use and don’t cover it with a cap. After drying for 30 minutes, the bacterium has disappeared.
• For young children, it’s better not to swim in stagnant water and not to take a bubble bath.
• Proper hand hygiene. Wash hands with a disinfectant gel or high concentrated alcohol (more than seventy percent).
• If the medicines must be nebulized, then clean the parts of the nebulizer thoroughly with water and soap. Dry the parts well and let them dry in the air. The nebulizer should be disinfected weekly.

Facts

• Cystic fibrosis was identified for the first time in 1938 by the American doctor Dorothy Hansine Andersen.
• The term ‘cystic fibrosis’ is derived from the Latin words cyst (fluid-filled vesicle) and fibrosis (scar tissue).
• The prevalence of cystic fibrosis is 0.05%.
• As the skin color becomes darker, the prevalence of CF decreases as well.
• Men and women are equally likely to have this disease.