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Pseudomonas bronchitis in a young adult
    Differential Diagnosis[Top] [Nav]
cystic fibrosis
    Discussion -- not available online[Top] [Nav]
    Update Comments[Top] [Nav]
  • In 70% of cystic fibrosis patients, a mutation at position 508 of the CFTR molecule is responsible (the so-called "delta-F 508" mutation). More than 170 other types of genetic lesions are responsible for the other 30% of cases. [107]
  • The human airway produces peptide antibiotics called defensins, but these are inactivated by high salt concentrations. This might explain why airways in cystic fibrosis become chronically colonized with pathogens such as Pseudomonas aeruginosa. [109]
    Footnotes in Print Edition[Top] [Nav]
    (1) Medical Knowledge Self-Assessment Program VII.
  American College of Physicians. Philadelphia: American College of Physicians, 1985: 21, B1-3.
    (2) The Metabolic Basis of Inherited Disease. 5th ed.
  Stanbury JB, et al. New York: McGraw-Hill, 1983: 1896-1897.
    (3) Intermediate-range sweat chloride concentration and Pseudomonas bronchitis. A cystic fibrosis variant with preservation of exocrine pancreatic function.
  Stern RC, Boat TF, et al.   JAMA 1978 Jun 23;239(25):2676-80.  Pubmed+Abstract  Similars
    (-) Cystic fibrosis in adolescents and adults.
  Penketh AR, Wise A, et al.   Thorax 1987 Jul;42(7):526-32.  Pubmed+Abstract  Similars
    New References[Top] [Nav]
Mild cystic fibrosis
    101.A cystic fibrosis mutation associated with mild lung disease.
  Gan KH, Veeze HJ, et al.   N Engl J Med 1995 Jul 13;333(2):95-9.  Pubmed+Abstract  Similars
    102.A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations.
  Highsmith WE, Burch LH, et al.   N Engl J Med 1994 Oct 13;331(15):974-80.  Pubmed+Abstract  Similars
    103.Mild cystic fibrosis in child homozygous for G542 non-sense mutation in CF gene [letter].
  Bonduelle M, Lissens W, et al.   Lancet 1991 Jul 20;338(8760):189.  Pubmed  Similars
    104.Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease.
  Cutting GR, Kasch LM, et al.   N Engl J Med 1990 Dec 13;323(24):1685-9.  Pubmed  Similars
    105.Mild cystic fibrosis linked to chromosome 7q22 markers with an uncommon haplotype.
  McConkie-Rosell A, Chen YT, et al.   Ann Intern Med 1989 Nov 15;111(10):797-801.  Pubmed+Abstract  Similars
    106.Opsonophagocytic killing antibody to Pseudomonas aeruginosa mucoid exopolysaccharide in older noncolonized patients with cystic fibrosis.
  Pier GB, Saunders JM, et al.   N Engl J Med 1987 Sep 24;317(13):793-8.  Pubmed+Abstract  Similars
Typical cystic fibrosis
    107.Cystic fibrosis: molecular biology and therapeutic implications.
  Collins FS.   Science 1992 May 8;256(5058):774-9.  Pubmed+Abstract  Similars
    108.The relation between genotype and phenotype in cystic fibrosis-- analysis of the most common mutation (delta F508).
  Kerem E, Corey M, et al.   N Engl J Med 1990 Nov 29;323(22):1517-22.  Pubmed+Abstract  Similars
Reviews
    109.Cystic fibrosis.
  Rosenstein BJ, Zeitlin PL.   Lancet 1998 Jan 24;351(9098):277-82.  Pubmed  Similars
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    ©1986-2000 John Sotos, MD. All rights reserved.  Last updated 16:34 PDT on July 4, 2000.[Top]

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