Cystic Fibrosis

Genetics

• Autosomal Recessive- need 1 recessive allele from each parent or 2 copies of the mutated gene
• Cystic Fibrosis Transmembrane Regulator (CTFR) gene
• Chromosome 7

Symptoms                                                            

• Diarrhea                                                                   
• Smelly and Greasy Stool
• Frequent Pneumonia                            
• Coughing
• Salty Skin
• Poor Growth

Diagnosis

• "Sweat Test"
• test amount of salt in sweat on skin
• Can be tested to see if you are a carrier (can only pick up 80% of carriers)

What is CF?

• Gene mutation that prevents the production of a protein which allows chloride ions to pass through the cell membrane
• This is why the skin of people with CF is saltier
• This results in lung damage and digestive problems

Treatment

• Enzyme supplements- lack of digestive enzymes
• Chest percussions and other methods used to clear mucus from lungs
• Drugs that break up mucus build up in lungs
• When older, lung transplants can extend life expectancy
• All lung problems can be treated but not cured
• Gene therapies available

Prevalence and Life Expectancy

• 1 in 2,500 in the U.S.
• Equal between men and women
• Most common in Caucasions and some Native Americans
• Life Expectancy- Mid 30's