Article
Clinical phenotype and genotype of children with borderline sweat test and abnormal nasal epithelial chloride transport.
American journal of respiratory and critical care medicine - 1 Oct 2010
Sermet-Gaudelus Isabelle, Girodon Emanuelle, Sands Dorota, Stremmler Nathalie, Vavrova Vera, Deneuville Eric, Reix Philippe, Bui Stéphanie, Huet Frédéric, Lebourgeois Muriel, Munck Anne, Iron Albert, Skalicka Veronika, Bienvenu Thierry, Roussel Delphine, Lenoir Gérard, Bellon Gabriel, Sarles Jacques, Macek Milan, Roussey Michel, Fajac Isabelle, Edelman Aleksander
Abstract excerpt
RATIONALE: The diagnosis of cystic fibrosis (CF) is based on a characteristic clinical picture in association with a sweat chloride (Cl(-)) concentration greater than 60 mmol/L or the identification of two CF-causing mutations. A challenging problem is the significant number of children for whom no definitive diagnosis is possible because they present with symptoms suggestive of CF, a sweat chloride level in the...
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