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Genetics and pathophysiology 

Genetics and pathophysiology
Chapter:
Genetics and pathophysiology
Author(s):

Alex Horsley

DOI:
10.1093/med/9780199582709.003.0001
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date: 16 October 2017

• Cystic fibrosis (CF) is the most common autosomal recessive disease in Caucasians associated with early death • Unaffected carrier frequency is 1:25 • Phe508del is the most common of over 1,500 mutations. • The gene encodes a transmembrane chloride conductance channel, the CFTR, which regulates chloride ion and water movements across the cell membrane • CFTR is expressed throughout the body, and CF disease affects multiple systems, including major effects on the lung, pancreas and gastrointestinal systems • Pulmonary disease is the most important cause of death and disability, resulting from chronic progressive suppurative lung disease • Over-activation of the sodium (ENaC) channel in the lungs, caused by loss of CFTR-inhibition, results in dehydration of the airway surface fluid layer and consequent poor mucociliary clearance • Retained secretions encourage bacterial adherence, chronic neutrophillic infection, and a vicious cycle of infection, inflammation and tissue destruction.

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