Article
Borderline sweat test: Utility and limits of genetic analysis for the diagnosis of cystic fibrosis.
Clinical biochemistry - 1 May 2009
Seia Manuela, Costantino Lucy, Paracchini Valentina, Porcaro Luigi, Capasso Patrizia, Coviello Domenico, Corbetta Carlo, Torresani Erminio, Magazzù Domenico, Consalvo Vincenza, Monti Alice, Costantini Diana, Colombo Carla
Abstract excerpt
OBJECTIVE: The sweat test remains the gold standard for the diagnosis of Cystic Fibrosis (CF) even despite the availability of molecular analysis of Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR). We investigated the relationship between CFTR mutation analysis and sweat chloride concentration in a cohort of subjects with borderline sweat test values, in order to identify misdiagnosis of CF....
Topics
- Adolescent
- Adult
- Child
- Child, Preschool
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA Mutational Analysis
- Female
- Genotype
- Humans
- Infant
- Male
- Middle Aged