M292 CASE OF AN ADULT WITH RECURRENT INFECTIONS AND ELEVATED SWEAT CHLORIDE CONCENTRATIONS

Abstract

Recurrent sinopulmonary infections and abnormal sweat chloride testing suggest a diagnosis of Cystic Fibrosis (CF). Without a CF transmembrane conductance regulator (CFTR) mutation, the diagnosis is less likely. Patients with negative CF genetic testing, positive sweat testing and diagnosed immunodeficiency have been reported, mainly in the pediatric literature. We present an adult patient with recurrent infections, elevated sweat chloride concentrations and negative CF genetic testing.