Living with Chronic Disease_ Cystic Fibrosis

Living with Chronic Disease_ Cystic Fibrosis - Cystic...

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Cystic Fibrosis A chronic disease
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Cystic Fibrosis Gene Cell proteins Tissues Organs Clinical symptoms Epidemiology
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CF is caused by mutations in the gene encoding  the cystic fibrosis transmembrane conductance  regulator or CFTR Autosomal recessive 1  in 2,000 – 3,000 live births In “Caucasian” or “white” populations Less common in other populations but increasingly  recognized Carriers are asymptomatic
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CFTR forms an anion-permeable channel  regulated by phosphorylation CFTR is located in the membrane of  epithelium in the pulmonary airways,  pancreatic duct, intestine, biliary ducts and  sweat gland ducts Different mutations cause different CFTR  malfunctions and different clinical outcomes Most common mutation is 3 base pair  deletion that causes loss of phenylalanine at  position 508  delta F508 This is causes misfolding of CFTR protein 
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CFTR Protein Mutations Disrupts the transport of chloride (and other ions  related to chloride transport such as sodium and  bicarobnate) Leads to thick, viscous secretions Increased salt in sweat gland secretions
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Living with Chronic Disease_ Cystic Fibrosis - Cystic...

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