Cystic fibrosis with normal sweat chloride concentration: case report
Rev. Hosp. Clin. Fac. Med. Univ. Säo Paulo
;
58(5): 260-262, 2003. ilus
Artigo
em Inglês
| LILACS
| ID: lil-349582
RESUMO
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
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Suor
/
Cloretos
/
Fibrose Cística
Tipo de estudo:
Estudo diagnóstico
Limite:
Adolescente
/
Feminino
/
Humanos
Idioma:
Inglês
Revista:
Rev. Hosp. Clin. Fac. Med. Univ. Säo Paulo
Assunto da revista:
Medicina
Ano de publicação:
2003
Tipo de documento:
Artigo
País de afiliação:
Brasil
Instituição/País de afiliação:
University of São Paulo/BR
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