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 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.
Assuntos
Cloretos/análise , Fibrose Cística/diagnóstico , Suor/química , Adolescente , Biomarcadores/análise , Fibrose Cística/genética , Feminino , Genótipo , Humanos , MutaçãoRESUMO
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
Assuntos
Humanos , Feminino , Adolescente , Cloretos/análise , Fibrose Cística/genética , Suor/química , Fibrose Cística/diagnóstico , Genótipo , MutaçãoRESUMO
Os autores apresentam um caso de hemossiderose pulmonar associada à alergia a proteínas do leite de vaca, de evoluçäo fatal, que foi diagnosticado clinicamente e confirmado por punçäo pulmonar pós-mortem
