Cystic fibrosis

Alternative Names

Cystic fibrosis

What is Cystic fibrosis

Cystic fibrosis is an inherited disease leading to severe lung damage and nutritional deficiencies. It affects the cells that produce mucus, sweat and digestive juices. Typically, these secretions are thin and slippery, but in cystic fibrosis, a defective gene makes them to get thick and sticky. In this condition the secretions do not function as a lubricant, they plug up tubes, ducts and passageways, especially in the pancreas and lungs.

Cystic fibrosis is the most common in white people of northern Europe occurring in about 1 out of 3000 live births. In the past, many people with this disorder died in their teens, but today with the help of improved screening and treatments most people live till their 50s or even longer.

Signs and symptoms

The most common symptoms of cystic fibrosis in a baby or young child included:

• A blocked small intestine at birth known as a meconium plug or meconium ileus
• Salty sweat or skin
• Wanting to eat more or less, having little energy or losing weight
• Unusual bowel movements. This may include diarrhea that does not go away; large, greasy stools; very smelly stools or constipation. If the intestines become blocked, the child's belly may stick out and the child may not be able to have a bowel movement.
• Breathing problems or getting tired easily while playing
• A cough or wheezing

Later symptoms can worsen and cause:

Coughing up mucus that sometimes has blood in it

Difficulty exercising or not being able to exercise

Rectal prolapse when part of the rectum protrudes from the anus

Clubbing (rounding and flattening) of the fingers

Growths (polyps) in the nose or sinuses

Not being able to have children (infertility)

Possible complications

The most common complication of this disease is chronic respiratory infection.

Other possible complications may include:

• Bowel problems such as gallstones, intestinal obstruction and rectal prolapse
Coughing up blood
• Chronic respiratory failure
• Diabetes
• Infertility
• Liver disease or liver failure, pancreatitis, biliary cirrhosis
• Malnutrition
• Nasal polyps and sinusitis
• Osteoporosis and arthritis
• Pneumonia
• Pneumothorax
• Right-sided heart failure (cor pulmonale)

What causes

The main cause of cystic fibrosis is a defective gene that makes the body to produce mucus. This mucus occurs in the breathing passages of the lungs and in the pancreas. It can cause life-threatening lung infections and serious problems of digestion.

Cystic fibrosis can also affect the sweat glands and a man's reproductive system.

Prevention

You should do genetic test before having children, if you or your partner has close relatives who have cystic fibrosis. This test helps to identify your risk of having a child with cystic fibrosis.

If you are already pregnant and the test shows that your baby may have cystic fibrosis, your doctor can do additional tests on your child's development. The results of these tests can help you to decide if you want to continue the pregnancy or not.

Treatment

Treatment for lung problems at early stage involves the followings:

• Antibiotics to prevent and treat lung and sinus infections, taken by mouth, intravenously or by breathing treatments.
• Inhaled medicines to help open the airways
• DNAse enzyme therapy to thin mucus and make it easier to cough up
• High concentration of salt solutions (hypertonic saline)
• Flu vaccine and pneumococcal polysaccharide vaccine (PPV) yearly (ask your health care provider)
• Lung transplant
• Oxygen therapy may be needed as lung disease gets worse

Treatment for bowel and nutritional problems include:

• A special diet high in protein and calories for older children and adults
• Pancreatic enzymes to help absorb fats and protein
• Vitamin supplements, especially vitamins A, D, E and K
• Your doctor can suggest other treatments if you have very hard stools