Cystic Fibrosis + Pleural Effusion

Question 0

@Cf what is the chromosomal problem ?

Answer 0

Chromosome 7 = 3 – nucleotide deletion that codes for female alanine – >

Defective protein folding @CFTR

Question 1

Epidemiology of cystic fibrosis i.e.
– Type of genetic disease
-Who is it in
-Survival

Answer 1

Autosomal recessive
90% @white people
30 years survival

Question 2

Since there is a defect in the CFTR what cannot be regulated?

Answer 2

Cannot regulate Cl - permeability @ sweat glands
– >Decreased Cl – @Sweat glands

Cannot regulate other secretions e.g.

• Increased Na + H20 reabsorption from luminal secretions
• Decreased Cl- secretion out of epithelial cells into luminal secretions