Respiratory channelopathies Flashcards
What is the prevalence of cystic fibrosis?
1 in 2500 births
What percentage of cystic fibrosis patients have problems with liver?
5%
What percentage of cystic fibrosis have problems with the pancreas?
65%
What percentage of cystic fibrosis patients have problems with small intestines?
10%
When does Meconium Ileus occur?
Within 3 days
When does pancreas insufficiency occur?
About 1 week
When does distal interstitial obstruction syndrome occur?
1-2 weeks
When does respiratory disease occur?
1 month
What does CFTR stand for?
Cystic fibrosis transmembrane conduction regulatory protein
What is the structure of CFTR?
12 transmembrane domains, regulatory domain(PKA phosphorylation), Nucleotide binding domain 1 + 2 –> bind nucleotides like ATP
What can mutations to CFTR impact on?
Production of CFTR, Processing, trafficking, regulation, conduction
What is the allelic frequency of F508?
90%
What is the lung pathology in CF?
Viscous airway mucous, recurrent bacterial infections, inflammation due to infections- tissue degeneration due to hypersensitive immune response
What is the structure of the upper airway epithelial cell?
Airway- ENaC, CFTR (out)
Blood- Na/K pump, NKCC1, K channel
What are treatments for Cystic fibrosis?
Physiotherapy, bronchdilatory, antibiotics, steroids, mucolytics
