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CFTR Physiology

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Cystic Fibrosis in Primary Care

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Abstract

Cystic fibrosis (CF) is an autosomal recessive condition, caused by mutation in the cystic fibrosis transmembrane regulator (CFTR) gene located on the long arm of chromosome 7 (Knowlton et al. Nature 318:380–2, 1985). This mutation can result in absent, abnormal, or reduced function of the CFTR protein which is a cAMP-regulated ion channel that controls transport of chloride, sodium, and bicarbonate across various cell membranes. Defective CFTR protein leads to abnormal electrolyte transport across cell membranes which, in turn, affects the secretions in these cells. The disease can involve various organs including lungs, pancreas, intestines, hepatobiliary system, and the reproductive system (O’Sullivan and Freedman Lancet 373:1891–904, 2009). Lung disease is a major cause of mortality and morbidity in patients with CF.

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Authors and Affiliations

  1. Department of pediatrics, Kansas University School of Medicine, Wichita, KS, USA

    Apeksha Sathyaprasad

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  1. Apeksha Sathyaprasad
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Correspondence to Apeksha Sathyaprasad .

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Editors and Affiliations

  1. St. Joseph Family Medicine Clinic, Via Christi Regional Medical Center, Wichita, KS, USA

    Douglas Lewis, MD, FAAFP

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Sathyaprasad, A. (2020). CFTR Physiology. In: Lewis, MD, FAAFP, D. (eds) Cystic Fibrosis in Primary Care . Springer, Cham. https://doi.org/10.1007/978-3-030-25909-9_3

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  • DOI: https://doi.org/10.1007/978-3-030-25909-9_3

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