Dr. Pratima Ghimire June, 2009 Cystic Fibrosis Dr. Pratima Ghimire June, 2009

Cystic Fibrosis Genetic disorder Autosomal recessive Inherited disease of secretory glands (which make mucous and sweat)

Cystic Fibrosis Cause Mutation in CFTR (cystic fibrosis transmembrane conductance regulator) gene Product of this gene makes chloride ion channel

Cystic Fibrosis Pathophysiology Mutation in the CFTR gene The protein created by this gene is anchored to the outer membrane of cells in the sweat glands, lungs, pancreas, and other affected organs The protein spans this membrane and acts as a channel connecting the inner part of the cell (cytoplasm) to the surrounding fluid

Cystic Fibrosis Pathophysiology This channel is primarily responsible for controlling the movement of chloride from inside to outside of the cell; however, in the sweat ducts it facilitates the movement of chloride from the sweat into the cytoplasm When the CFTR protein does not work, chloride is trapped inside the cells in the airway and outside in the skin

Cystic Fibrosis Mucus becomes thick and sticky Mucus builds up in lungs and blocks airways Buildup of mucus makes it easy for bacteria to grow This leads to repeated, serious lung infections. Over time, these infections can severely damage lungs

Cystic Fibrosis The thick, sticky mucus also can block tubes, or ducts in pancreas As a result, the digestive enzymes that pancreas makes can't reach small intestine Intestines can't fully absorb fats and proteins This can cause vitamin deficiency and malnutrition It also can cause bulky stools, intestinal gas, a swollen belly from severe constipation, and pain or discomfort

Cystic Fibrosis Also causes sweat to become very salty As a result body loses large amounts of salt during sweating This can upset the balance of minerals in blood

Cystic Fibrosis CF causes increased risk for diabetes or osteoporosis Also causes infertility in men, and it can make it harder for women to get pregnant

Cystic Fibrosis Hallmarks Salty tasting skin Normal appetite but poor growth Poor weight gain Excessive mucus production Coughing SOB

Cystic Fibrosis Males– infertile due to congenital B/L absence of vas deferens Meconium ileus – typical finding in NB babies with cystic fibrosis More common in western world

Cystic Fibrosis Diagnosis Sweat testing Genetic testing Chorionic villous sampling amniocentesis

Cystic Fibrosis Cure Gene therapy at early age – to replace the defective gene Give active form of protein product that is deficient Lung transplantation in severe lung disease Pancreatic enzyme supplementation in severe pancreatic deficiency