Pseudo–Bartter Syndrome and Intermediate Sweat Chloride Levels—It Could Still be Cystic Fibrosis!
نویسندگان
چکیده
منابع مشابه
Protracted neonatal hypertrypsinogenaemia, normal sweat chloride, and cystic fibrosis.
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...
متن کاملCystic fibrosis with normal sweat chloride concentration--case report.
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,...
متن کاملAnomalous sweat chloride levels in cystic fibrosis during antibiotic therapy.
about the trial so that we will be notified of any children who are found to have CF who were born in either of the hospitals since the beginning of the trial. In this way we hope to find out how many cases of CF have been missed by the test. As far as we know this is the first attempt at a prospective screening programme for CF using this technique. The time taken for the test is 10 to 15 seco...
متن کاملSweat chloride concentration in cystic fibrosis patients with cystic fibrosis trans-membrane conductance regulator 11234V mutation.
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...
متن کاملSweat 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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ژورنال
عنوان ژورنال: Indian Journal of Pediatrics
سال: 2021
ISSN: 0019-5456,0973-7693
DOI: 10.1007/s12098-021-03733-5