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Cystic Fibrosis - Review
The purpose of this paper is to give a brief overview of
cystic fibrosis; its pathogenesis, diagnosis, treatment
and prognosis. Cystic fibrosis is an autosomal recessive
disorder, which is caused by a mutation in the CFTR
protein, a chloride channel in epithelial cell membranes.
More than 1500 mutations are known. The incidence
is 1/2.000-3.000 in nations of European origin. The
CFTR mutation influences the secretion and absorption
by epithelium in various organs. The consequences
are different depending on the organ, but there is a
global tendency for obstruction of secretory glands.
The primary organs affected are the respiratory tract,
pancreas, gastrointestinal tract and sweat glands. The
disease is most often diagnosed during the first months
of life, with a common presentation of salty tasting
sweat, failure to thrive and diverse faecal problems.
Possible diagnostic tools are sweat test and DNA testing.
Respiratory symptoms cause most morbidity, with chronic
infections and an exaggerated inflammatory response.
Abnormal water and electrolyte composition leads
to thicker respiratory secretions compared to that of
healthy individuals. The interaction of pathogens with the
epithelium causes S.aureus and later P.aeuruginosa, to
transform into a mucoid form which is much more difficult
to eradicate with antibiotics, making them a significant
part of the disease burden of cystic fibrosis. The main
respiratory medications are antibiotics, bronchodilators,
mucolytic agents and anti-inflammatory agents. 90% of
cystic fibrosis patients have pancreas insufficiency which is
treated with pancreas enzymes. A good nutritional status is
a necessary basis for any further treatment. The prognosis
of cystic fibrosis patients has improved greatly over the
last few decades in parallel with increased knowledge,
and the average survival is currently 37 years in the
United States.
Key words: Cystic fibrosis, CFTR, pathogenesis, diagnosis, treatment.
Jonsdottir B, Bergsteinsson H, Baldursson O. Cystic Fibrosis - Review. Icel Med J 2008; 94: 831-7.
Correspondence: Ólafur Baldursson, olafbald@landspitali.is
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Barst: 31. mars 2008, - samþykkt til birtingar: 5. nóvember 2008.
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