Is negative neonatal screening for cystic fibrosis sufficient to rule out the diagnosis?
Journal Title: World Journal of Medical Images, Videos and Cases - Year 2016, Vol 2, Issue
Abstract
The article describes a case of 10-month-old child with negative neonatal cystic fibrosis screening test results. The child had developed signs of severe food allergy in infant age. Due to a metabolic disorder with hypochloraemia, hypokalaemia and hyponatraemia, cystic fibrosis was suspected. We ran further tests despite negative chloride sweat test results. Genetic examination confirmed the mutation which may cause negative results of chloride sweat tests.
Authors and Affiliations
Nina Bližnáková, Ingrid Mikulášová, Jaroslava Orosová, Martin Brezina
Keywords
Related Articles
- EP ID EP301558
- DOI -
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