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Genetics and pathophysiology 

Genetics and pathophysiology
Genetics and pathophysiology

Alex Horsley

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date: 20 July 2018

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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