title: Diagnostic Testing in Cystic Fibrosis.
abstract: Cystic Fibrosis (CF) is a rare, multisystem disease leading to significant morbidity and mortality. CF is caused by defects in the cystic fibrosis transmembrane conductance regulator protein (CFTR), a chloride and bicarbonate transporter. Early diagnosis and access to therapies provides benefits in nutrition, pulmonary health, and cognitive ability. Several screening and diagnostic tests are available to support a diagnosis. We discuss the characteristics of screening and diagnostic tests for CF and guideline-based algorithms using these tools to establish a diagnosis. We discuss classification and management of common "diagnostic dilemmas," including the CFTR-related metabolic syndrome and other CFTR-associated diseases.
authors: Division of Pulmonary Medicine, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, MLC 2021, 3333 Burnet Avenue, Cincinnati, OH 45229, USA.
authors: John
authors: J
authors: Brewington
authors: Division of Pulmonary Medicine, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, MLC 2021, 3333 Burnet Avenue, Cincinnati, OH 45229, USA. Electronic address: john.clancy@cchmc.org.
authors: J P
authors: JP
authors: Clancy
mesh_terms: D000465:Algorithms; D003550:Cystic Fibrosis / Q000175:diagnosis*; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening / Q000379:methods*
keywords: CRMS; Cystic fibrosis; Diagnosis; Newborn screening; Sweat chloride