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Cystic Fibrosis (Treatment (Pancreatic enzyme supplements, Preventative…
Cystic Fibrosis
Treatment
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Preventative measures (nutrition, exercise, vaccination)
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Antibiotics (prophylactic treatment, oral, iIV or nebuliser)
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Manifestations
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G-I Tract obstruction
Intestinal obstruction, meconium ileus in babies
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Mortality
life expectancy >40, 10% mortality rate
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CFTR
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Regulated by cAMP
made by adenylate cyclase, degraded by phosphodiesterase
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Structure
2x6 membrane spanning helices, 2x nucleotide binding domains, 1xR domain
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Mutations
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Delta F-508
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Misfolded protein recognised by chaperones and ubiquitinylated by ligases E1, E2 and E3
Polyubiquitinated DF508 recognised by proteins in the translocon to remove it from the ER membrane and deliver it to the 26S proteasome to be degraded
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Histology
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Progressive lung damage = impaired function, and eventual failure
Overview
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Most common mutation = delta f 508, causes a loss of phenylalanine at position 508
Inheritance
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one carrier parent = 50% carriers, none affected
2 carrier parents = 50% carriers, 25% affected
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