Cystic fibrosis clinical presentation

The analysis of sweat for increased electrolyte concentration is used to confirm the diagnosis of cystic fibrosis (CF). CF is recognized as a syndrome with a wide spectrum of clinical presentations associated with a defect in the cystic fibrosis transmembrane conductance regulator protein (CFTR), a protein that normally regulates electrolyte transport across epithelial membranes. (For a more detailed discussion of CF, see Chapter 40.) Several hundred mutations of CFTR have been identified. Although mutational analysis is available, it is not informative in all cases, and the sweat test remains the standard for diagnostic testing. ... 

Bronsveld I, Bijman J, Mekus F, Ballmann M, Veeze HJ, Tummler B. Clinical presentation of exclusive cystic fibrosis lung disease. Thorax 1999 54 278-281. 

Many of the clinical studies into the mechanisms of pulmonary inflammation in cystic fibrosis have centered on determining the presence (or absence) of candidate mediators that may contribute to the pathogenesis of lung inflammation. Studies of both sputum specimens and BAL fluid obtained from adolescents and adults with cystic fibrosis have established that a plethora of pro-inflammatory mediators are present in airway surface liquid in patients with the disease. 

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