Mutation in the CFTR gene on chromosome 7 for the protein cystic fibrosis transmembrane conductance regultaor Faulty protein leads to abnormal transport of NaCl across membranes Excess NaCl leads to thick, viscous secretions Clogs air passages in the lungs --> difficulty breathing, coughing Predisposes to infection Prevents the release of digestive enzymes from pancreas --> malnutrition Blocks sperm ducts --> infertility in males Epidemiology >1 million Australians carry the faulty CF gene Most common life-threatening genetic condition in Australia Most common among Caucasians (4% of people of Euro descentare carriers) Signs and symptoms Peristent cough, aggravated by exertion Breathing difficulties Fatigue, impaired exercise ability Sinus infections Poor growth Salt loss in hot weather --> weakness Poor appetite Diagnosis Carrier testing (using PCR of FISH) Only offered to those with a family history of CF Not conclusive because there are >900 mutations of the gene Diagnosis at birth: Blood spot test for abnormal raised immunoreactive trypsinogen If positive, sweat test is done to measure salt content Diagnosis before birth (using PCR or FISH): Only offered to those with a family history of CF Chorionic villus sampling (10-12 weeks, risk of fetal death 1 in 100) Amniocentesis (16-22 weeks, risk of fetal death 1 in 200) Not conclusive because there are >900 mutations of the gene Risk factors Family history Complications Meconium ileus 1/10 babies will get it within the first few days of life Meconium (thick black material present in all neonates) abnormally thick, obstructing the bowel Need urgent bypass operation Lung damage Repeated infections and blockages can cause ireversible lung damage and death Diabetes In older patients Due to deficient insulin production from pancreatic disease Osteoporosis Due to nutritional problems Due to steroid use to control lung disease Liver damage Due to blocked ducts in the liver Only 8% of patients get it Treatment and management No cure Lungs Chest physiotherapy Antibiotics Inhalations via compressed air pump and nebuliser (aerosol medications) Regular exercise to maintain lung capacity Digestion Enzyme replacement capsules Nutritious diet, supplementary vitamins Sweat glands Salt supplements and fluids Prognosis Ultimately, lung transplant is often necessary as CF worsens Life expectancy 38 years