1. CYSTIC FIBROSIS FANOURAKI MARIA 27137 CHARALAMPIDOU ALEXANDRA 27138

2. CYSTIC FIBROSIS (CF) What is CF? CF is a genetic, inherited and non contagious disorder characterized by the affection of the body’s exocrine glands and airways, preventing them from functioning properly. It is one of the most common disorders in Caucasians (1 in 22 is a carrier and 1 in 3300 is a CF patient).

3. Genetics CF is a genetic disorder because it is caused by mutations in the CFTR gene. This gene (located on chromosome 7) encodes the CFTR protein which is important for the proper function of epithelium cells. A patient has 2 copies of the mutated gene (Mendelian autosomal recessive inheritance). The most common mutation is known as delta-508. i)The normal sequence of the CFTR gene. ii) The delta-508 mutation Pict.1

4. How does CF affect the body? CF sufferers produce an abnormal CFTR protein that doesn’t function properly and eventually leads to the presence of high levels of salt in patients’ sweat and the production of thick and viscous secretions. This pathological condition affects the respiratory, digestive and reproductive system. Pict.2: The CFTR protein

5. How does CF affect the respiratory system? CF affects both the lungs and the sinuses. Patients suffering from CF produce thick, sticky mucus in excess within their airways. This secretions become impossible to be removed normally from the respiratory system. Eventually they block the small airways which then become easily inflamed. As the disease progresses the changes that take place in the respiratory system lead to reduced ability of the lungs to transfer oxygen to the blood and to all body’s tissues. Pict.3: Α patient’s lung. Blue and green colors show the airways, clogged by mucus.

6. How does CF affect the digestive system? In patients with CF the viscous mucus that is produced from the epithelial cells, obstructs the ducts of the pancreas, the gastrointestinal tract, also the bile ducts and some of the salivary glands. So, it is difficult for their products to be secreted. Therefore, there is food maldigestion and malabsorption. Pict.4: The digestive system

7. How does CF affect the reproductive system? In males CF causes abnormal development of the vas deferens and problems with sperm transport. In females CF causes the production of too thick cervical secretions.

8. Symptoms  Repeated sinus and respiratory infections  Collapsed lung (pneumothorax)  Chronic cough often accompanied by gagging, vomiting and disturbed sleep  Coughing up blood (hemoptysis)  Wheezing and breathing difficulty  Nasal polyps (bumps inside the nose)  Nasal congestion  Abundant respiratory secretions  Barrel-shaped chest  Clubbed fingers and toes

9.  “Failure to thrive” (a condition where a child doesn’t gain weight or grow in height normally)  Vitamin and mineral deficiency which may lead to night blindness, rickets, bleeding disorders and anemia  Rectal prolapse (a condition where the lining of the large intestine protrudes through the anus)  Stomach aches  Meconium Ileus (a form of intestinal obstruction in newborns) may lead to perforation of the intestinal wall or a twisted intestine  Bright or echogenic bowel (when they can see a Meconium Ileus in development in the uterus  Chronic diarrhea

10.  Frequent, greasy, bulky, foul-smelling stool  Declining physical endurance  Splenomegaly  Delayed puberty  Foul-smelling breath  Insulin-dependent diabetes  Cirrhosis  Salty sweat and skin  Dehydration  Sterility in males-decreased fertility in females  Heart failure

11. Diagnosis  Sweat testing: It has been the most common method to diagnose CF for 40 years. The test reveals the amount of chloride in sweat. Elevated levels (more than 60 mmol/L) prove the existence of CF.  Trypsinogen test: It is a quite common test that measures the amount of an enzyme (trypsinogen) in the blood. High levels suggest CF.  Chest X-Rays  Lung function tests  Fecal fat test: It determines the amount of fat in the stools and dietary fat that is unabsorbed.

12. Treatment  Gene therapy: Α normal CFTR gene is transferred into the patient’s cells living in the respiratory tract. The normal gene produces a functional CFTR protein.  Antibiotics: Τhey are used against infections.  Aerosol sprays: Τhey fight breathing problems.  Pancreatic Enzyme Replacement Therapy (PERT): Capsules are taken with every meal or snack. They contain enzymes that are essential for food digestion.  The “flutter”: It is a device that clears the mucus which clog the patient’s airways.  Nutritional support: There is excessive need for vitamins, enzymes, proteins, fats and salt.

13. …and some interesting things about CF  Most people ignore CF, although it is the most common genetic disorder in our race.  Over 1000 mutations in the CFTR gene have been found to cause CF.  The median survival is approximately 40 years, whereas in 1950’s it was 8 years.