Diagnostic Testing in Cystic Fibrosis.

Link to article at PubMed

Diagnostic Testing in Cystic Fibrosis.

Clin Chest Med. 2016 Mar;37(1):31-46

Authors: Brewington J, Clancy JP

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.

PMID: 26857766 [PubMed - in process]

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