Cystic Fibrosis by 7m4ysl36


									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

• This leads to repeated, serious lung infections.
  Over time, these infections can severely damage
               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
• 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
               Cystic Fibrosis
• CF causes increased risk for diabetes or

• 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

  – Lung transplantation in severe lung disease

  – Pancreatic enzyme supplementation in severe
    pancreatic deficiency

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