• Luiz Vicente Ferreira da Silva Filho, Maria Helena de Carvalho Ferreira Bussamra, Cleyde Miriam Aversa Nakaie, Fabíola Villac Adde, Joaquim Carlos Rodrigues, Salmo Raskin, and Tatiana Rozov.
• Children's Institute, Hospital das Clínicas, Faculty of Medicine, University of São Paulo, São Paulo/SP, Brazil.
• Rev Hosp Clin Fac Med Sao Paulo. 2003 Sep 1; 58 (5): 260-2.

AbstractCystic fibrosis is a genetic disease usually diagnosed by abnormal sweat testing. We report a case of an 18-year-old female with bronchiectasis, chronic P. aeruginosa infection, and normal sweat chloride concentrations who experienced rapid decrease of lung function and clinical deterioration despite treatment. Given the high suspicion of cystic fibrosis, broad genotyping testing was performed, showing a compound heterozygous with deltaF508 and 3849+10 kb C-->T mutations, therefore confirming cystic fibrosis diagnosis. Although the sweat chloride test remains the gold standard for the diagnosis of cystic fibrosis, alternative diagnostic tests such as genotyping and electrophysiologic measurements must be performed if there is suspicion of cystic fibrosis, despite normal or borderline sweat chloride levels.

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