HTHSCI 1DT3 Lecture Notes - Lecture 7: Epithelial Sodium Channel, Sweat Test, Neutrophil
13 Aug 2020
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Mod. 2-2 & 1-13, 14 cystic fibrosis (cf) 4. Able to give enzyme supplement and correlation between genotype and phenotype is very good. In the lungs, f508 mutation will result in different lung disease. Unable to predict which class, relationship between phenotype and genotype is poor: able to give enac inhibitors, but these are not specific for the lungs and could affect the kidneys. Need to find more specific drugs to avoid kidney toxicity. Disease severity can be caused by a few factors: cftr mutation (as above, modifier genes. If there is a very active immune system able to fight bacterial infection and will perform better if patient has cf. If na channel does not work well also a benefit: environment (smoke, pollution, socio-economic status, the poor might be able to afford best healthcare (not in uk but us, education of mothers. If mothers have higher education, cf patients will do better.
