Diagnostic Testing in Cystic Fibrosis

John Brewington; J P Clancy

doi:10.1016/j.ccm.2015.10.005

Diagnostic Testing in Cystic Fibrosis

Clin Chest Med. 2016 Mar;37(1):31-46. doi: 10.1016/j.ccm.2015.10.005. Epub 2015 Dec 28.

Authors

John Brewington¹, J P Clancy²

Affiliations

¹ Division of Pulmonary Medicine, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, MLC 2021, 3333 Burnet Avenue, Cincinnati, OH 45229, USA.
² 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.

PMID: 26857766
DOI: 10.1016/j.ccm.2015.10.005

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.

Keywords: CRMS; Cystic fibrosis; Diagnosis; Newborn screening; Sweat chloride.

Publication types

Review

MeSH terms

Algorithms*
Cystic Fibrosis / diagnosis*
Genetic Testing / methods*
Humans
Infant, Newborn
Neonatal Screening / methods*