1st Section

Definition: o Cystic Fibrosis is an autosomal recessive genetic disorder characterized by the buildup of abnormally thick, viscous mucus, especially in the lungs. o Affects lungs, pancreas, liver, intestines, sinuses, and sex organs. o Identified by abnormal transport of chloride and sodium, leading to thick mucus Symptoms: o Fibrosis (scarring) of the mucosal linings of the body o Respiratory symptoms involve wheezing, breathlessness, difficulty exercising, lung infections, persistent coughing, etc. along with pulmonary hypertension and structural malformations to the lungs. o Other symptoms involve poor growth, constipation, etc. Population at Risk: o Most common in Caucasians of Northern European descent (1 in 2500-3500 Caucasian newborns)

o Less common in African Americans and Asian Americans (1 17000, 1 31000 respectively)

2nd Section
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Testing Procedures o Newborn screening, sweat analysis, and genetic testing o Prenatal testing may also be performed Discovery of any CFTR gene mutations may indicate a high risk of cystic fibrosis in possible newborns Treatments o Antibiotics are often used to prevent bacterial infections o Mechanical breathing devices are used in heavy to extreme cases to assist in breathing and clearing mucus secretions. In the most extreme cases, a tracheostomy may be performed (the patient is hooked up to a ventilator) o Investigational medications involve aerosolized medications that break down mucous, recombinant DNA injections that destroy mucous DNA and bring down viscosity, and drugs that open up alternative chloride channels (thus making the mucous less viscous)

o If the patient is considered to be in danger or in need of mechanical assistance, lung transplants are recommended Prognosis o Quality of life and life expectancy have increased dramatically over the decades Life expectancy was approx. 6 months in the 1950s. Today, Patients can expect to live to their 40s with proper treatment in the U.S. Exercise and all around healthy habits are recommended to keep body functions in check, especially respiratory functions