Cystic fibrosis with normal sweat chloride concentration: case report

Authors

  • Luiz Vicente Ferreira da Silva Filho University of São Paulo; Faculty of Medicine; Hospital das Clínicas; Children's Institute
  • Maria Helena de Carvalho Ferreira Bussamra University of São Paulo; Faculty of Medicine; Hospital das Clínicas; Children's Institute
  • Cleyde Miriam Aversa Nakaie University of São Paulo; Faculty of Medicine; Hospital das Clínicas; Children's Institute
  • Fabíola Villac Adde University of São Paulo; Faculty of Medicine; Hospital das Clínicas; Children's Institute
  • Joaquim Carlos Rodrigues University of São Paulo; Faculty of Medicine; Hospital das Clínicas; Children's Institute
  • Salmo Raskin University of São Paulo; Faculty of Medicine; Hospital das Clínicas; Children's Institute
  • Tatiana Rozov University of São Paulo; Faculty of Medicine; Hospital das Clínicas; Children's Institute

DOI:

https://doi.org/10.1590/S0041-87812003000500005

Keywords:

Cystic fibrosis, Atypical, Diagnosis, Sweat chloride, Mutations

Abstract

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.

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Published

2003-01-01

Issue

Section

Case Report

How to Cite

Cystic fibrosis with normal sweat chloride concentration: case report . (2003). Revista Do Hospital Das Clínicas, 58(5), 260-262. https://doi.org/10.1590/S0041-87812003000500005