Cystic fibrosis

Posted by e-Medical PPT
Cystic fibrosis is a common recessive genetic disease which affects the entire body, causing progressive disability and often early death.CF is caused by a mutation in the gene for the protein cystic fibrosis transmembrane conductance regulator (CFTR). This gene is required to regulate the components of sweat, digestive juices, and mucus. Although most people without CF have two working copies of the CFTR gene, only one is needed to prevent cystic fibrosis. CF develops when neither gene works normally. Therefore, CF is considered an autosomal recessive disease.Approximately 30,000 Americans have CF, making it one of the most common life-shortening inherited diseases in the United States.
The hallmark symptoms of cystic fibrosis are salty tasting skin,poor growth and poor weight gain despite a normal food intake,accumulation of thick, sticky mucus,frequent chest infections and coughing or shortness of breath.Males can be infertile due to congenital absence of the vas deferens.Symptoms often appear in infancy and childhood, such as bowel obstruction due to meconium ileus in newborn babies.
Cystic fibrosis may be diagnosed by many different categories of testing including those such as, newborn screening, sweat testing, or genetic testing.The newborn screen initially measures for raised blood concentration of immunoreactive trypsinogen.Infants with an abnormal newborn screen need a sweat test in order to confirm the CF diagnosis. In many cases, a parent makes the diagnosis because the infant tastes salty.Trypsinogen levels can be increased in individuals who have a single mutated copy of the CFTR gene

Share Medical Presentations