Article
Cystic fibrosis with normal sweat chloride concentration--case report.
Revista do Hospital das Clinicas - 1 Jan 2000
Silva Filho Luiz Vicente Ferreira da, Bussamra Maria Helena de Carvalho Ferreira, Nakaie Cleyde Miriam Aversa, Adde Fabíola Villac, Rodrigues Joaquim Carlos, Raskin Salmo, Rozov Tatiana
Abstract excerpt
Cystic 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...
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