Cystic Fibrosis - PowerPoint PPT Presentation

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Cystic Fibrosis

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Advances in treatments and understanding of cystic fibrosis. Focus on pulmonary disease ... many factors play into the severity of cystic fibrosis ... – PowerPoint PPT presentation

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Title: Cystic Fibrosis


1
Cystic Fibrosis
  • Research By Felix Ratjen and Gerd DoringThe
    Lancet February 22, 2003
  • Presented by

2
Introduction
  • commonly known as CF
  • most common autosomal recessive disorder in
    whites
  • about 1 in 2500 live births
  • CFTR- mutated gene
  • discovery aided in diagnosis and showed its
    complexity
  • better treatments have increased life expectancy
    for patients over the past decades

3
Focus
  • Advances in treatments and understanding of
    cystic fibrosis
  • Focus on pulmonary disease
  • Accountants for most morbidity and deaths

4
Causes
  • CF is caused by mutations in a 230 k gene on
    chromosome 7 encoding a 1480 amino acid
    polypeptide
  • CFTR functions as a chloride channel in
    epithelial membranes
  • there is over 1,000 mutations described so far

5
Mutations(CFTR)
  • Can be grouped into 6 classes
  • 1. CFTR is not synthesized
  • 2. Defective processing
  • 3. Regulation
  • 4. Conductance
  • 5. Partly defective production or
  • processing
  • 6. Defective regulation of other channels

6
Mutations continued...
  • Classes 1-3 are most common and are associated
    with pancreatic insufficiency
  • Classes 4-6 are rarer and typically patients do
    not have insufficiency
  • most common worldwide is class 2 caused by
    deletion of phenylalanine at position 508
    (F508del) of CFTR
  • its frequency varies between ethnic groups

7
Factors
  • suggest that environmental factors, genes other
    than CFTR or both, modify the development,
    progression, and the diseases severity
  • CFTR also regulates other apical membrane
    conductance pathways which are affected by
    mutations

8
Pulmonary infection
  • CF leads to pathological changes in organs that
    express CFTR secretory cells, sinuses, lungs,
    pancreas, liver, and reproduction
  • most striking changes seen in airways
  • basic genetic defect causes chronic pulmonary
    infections

9
Conclusion
  • Pulmonary infections are a result of genetic
    defect of CFTR
  • many factors play into the severity of cystic
    fibrosis
  • although there is no known cure for CF, with the
    increasing knowledge of the disease, the
    treatments become more effective, increasing life
    span of the CF patient

10
Questions
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