Sweat testing for cystic fibrosis. Diagnostic screening with a combination chloride ion-selective electrode.
نویسندگان
چکیده
منابع مشابه
Sweat testing for cystic fibrosis
Screening of sweat chloride in newborn infants with the Orion Skin Chloride Measuring System and incorporating some procedural innovations is described. The results indicate that while diagnostic screening for cystic fibrosis can be readily undertaken, the test with the chloride ionselective electrode is best left at least to the second day of life or later because of insufficient sweating in v...
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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,...
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C fibrosis (CF) is one of the most common inherited diseases in Caucasian people. It is caused by mutations in both the cystic fibrosis transmembrane conductance regulator (CFTR) gene that encodes a transmembrane glycoprotein.1 One of the main consequences of mutations in the CFTR gene is a dysfunction of ion channels resulting in elevated sweat chloride concentrations, pancreatic insufficiency...
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The cystic fibrosis (CF) clinical spectrum has greatly expanded in the past few years, including atypical forms with low sweat chloride concentrations. Two cases are presented which suggest that children detected by neonatal CF screening whose trypsinogen concentrations are still raised by the second month of age could, despite a negative sweat test, be affected by an atypical CF with fully exp...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1978
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.53.6.483