7.4 Cystic Fibrosis

What is Cystic Fibrosis

  • a genetic disease that affects lungs, pancreas, and other organs

    • progressive, meaning it gets worse over time

  • close to 40,000 children and adults are living with CF in the U.S.

    • 105,000 estimated across 94 countries

    • can affect people of every racial and ethnic group

  • mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene causes the CFTR protein to not function properly

    • unable to help move chloride to the cell surface, mucus in various organs becomes thick and sticky

  • affects multiple organs

    • lungs — mucus clogs airways and traps germs, leading to infections, inflammation, and respiratory failure

    • pancreas — mucus builds up, precenting the release of digestive enzymes that help the body absorb food and nutrients

    • liver — mucus can block the bile duct, causing liver disease

    • can affect the ability to have children (in men)

Symptoms

  • salty tasting skin

  • persistent coughing, at times w/ phlegm

  • frequent lung infection (pneumonia, bronchitis, etc)

  • wheezing, shortness of breath

  • poor growth/weight gain despite appetite

  • frequent greasy, bulky stools

  • nasal polyps

  • chronic sinus infections

  • clubbing or enlargement of fingertips or toes

  • rectal prolapse

  • male infertility

Genetics and Diagnosis

  • CF is a genetic disease

    • inherited 2 copies of the CF gene

  • defective CF genes contain a slight abnormality

  • there are more that 1,700 known mutations of the disease

  • genetic tests screen for common CF mutations

    • can indicate carriers and noncarriers

  • diagnosis is a multistep process

    • newborn screening

    • sweat test

    • genetic or carrier test

    • clinical evaluation at a CF Foundation-accredited care center

  • most are diagnosed with CF before 2, some are diagnosed as adults

The Outlook

  • advancement in specialized CF care added years and improved the quality of lives

  • a child with CF rarely survived long enough to attend elementary school in the 1950s

    • many today dream of attending college, pursuing careers, and having kids

Managing CF

  • types of symptoms and severity can differ widely

  • treatment plans contain many of the same elements and tailored to each person’s needs

  • each day, people with CF complete a combination of therapies

    • airway clearance — helps loosen and get rid of thick mucus built up in lungs

    • inhaled medicines — used to open airways or thin mucus

      • includes antibiotics to fight lung infections

    • pancreatic enzyme supplements — improves the absosorption of vital nutrient and are taken with every meal and most snacks

    • fitness plan — to improve energy, lung function, and overall health

    • CFTR modulators — targets the underlying defect if the CFTR protein

Research

  • the CF Foundation started with a group of parents in 1955

    • aimed to advance understanding of CF, create new treatments and specialized care for their children, and find a cure

  • fundraising and commitment to support fundamental research lead to groundbreaking discoveries, paving the way for researchers to create new treatments