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Media type:
E-Article
Title:
Cystic fibrosis with normal sweat chloride concentration: case report
Contributor:
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
Published:
FapUNIFESP (SciELO), 2003
Published in:
Revista do Hospital das Clínicas, 58 (2003) 5, Seite 260-262
Language:
Not determined
DOI:
10.1590/s0041-87812003000500005
ISSN:
0041-8781
Origination:
Footnote:
Description:
<jats:p>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 ofcystic fibrosis, broad genotyping testing was performed, showing a compound heterozygous with deltaF508 and 3849+10kb 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.</jats:p>