Sweat Chloride Testing

A 5-year-old girl with a family history of cystic fibrosis presented with constipation, poor weight gain, and a BMI below the third percentile. Three sweat chloride tests were indeterminate, a CFTR analysis panel was negative, and whole-genome sequence analysis revealed 1 cystic fibrosis–causing mut...

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Bibliographic Details
Published in:JAMA : the journal of the American Medical Association 2019-02, Vol.321 (7), p.701-702
Main Authors: McCarthy, Cormac, Clancy, John P, Brewington, John
Format: Article
Language:English
Subjects:
Body mass
Chlorides
Constipation
Cystic fibrosis
Genetics
Genomes
Girls
Mutation
Nucleotide sequence
Sweat
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Summary:A 5-year-old girl with a family history of cystic fibrosis presented with constipation, poor weight gain, and a BMI below the third percentile. Three sweat chloride tests were indeterminate, a CFTR analysis panel was negative, and whole-genome sequence analysis revealed 1 cystic fibrosis–causing mutation. What would you do next?
ISSN:0098-7484
1538-3598
DOI:10.1001/jama.2018.21998