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Functional Evaluation of Cystic Fibrosis Transmembrane Conductance Regulator

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Diagnostic Tests in Pediatric Pulmonology

Part of the book series: Respiratory Medicine ((RM))

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Abstract

Cystic fibrosis is caused by mutations in the cystic fibrosis transmembrane regulator (CFTR) gene which encodes an epithelial anion channel and regulatory protein. Derangements of CFTR protein function result in thickened, viscous mucus in the airways, GI tract, pancreas, sweat gland, and reproductive tract. The diagnosis and prognosis of CF is facilitated by demonstrating functional decrements of CFTR activity, and is a cornerstone of the diagnostic criteria. This chapter details the conduct and interpretation of the two most widely available diagnostic tests for CFTR functional analysis: sweat chloride testing and nasal potential difference (NPD). Details regarding the methods for conduct of these tests, sources of error, and emerging results supporting their interpretation are discussed.

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Authors and Affiliations

  1. Division of Pulmonary Allergy and Critical Care Medicine, Department of Medicine, University of Alabama at Birmingham, MCLM 706, 1918 University Blvd, Birmingham, AL, 35294-0005, USA

    George M. Solomon M.D. & Steven M. Rowe M.D., M.S.P.H.

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  1. George M. Solomon M.D.
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  2. Steven M. Rowe M.D., M.S.P.H.
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Correspondence to Steven M. Rowe M.D., M.S.P.H. .

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Editors and Affiliations

  1. Section of Pediatric Pulmonology, Allergy and Sleep Medicine, Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, Indiana, USA

    Stephanie D. Davis

  2. Respiratory and Allergic Disease Division, Dept. Paediatrics & Adolescent Medicine, Medical University of Graz, Graz, Austria

    Ernst Eber

  3. Division of Pulmonary & Sleep Medicine, Children’s National Medical Center/George Washington University, School of Medicine and Health Sciences, Washington, District of Columbia, USA

    Anastassios C. Koumbourlis

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Solomon, G.M., Rowe, S.M. (2015). Functional Evaluation of Cystic Fibrosis Transmembrane Conductance Regulator. In: Davis, S., Eber, E., Koumbourlis, A. (eds) Diagnostic Tests in Pediatric Pulmonology. Respiratory Medicine. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4939-1801-0_5

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