Cystic Fibrosis Flashcards
describe consequences of cystic fibrosis
salty sweat intestinal blockage fibrotic pancreas failure to thrive recurrent bacterial lung infections congenital bilateral absence of vas deferens filled sinuses gallbladder and liver disease - gallstones enlarged heart altered mucous production nose polyps trouble breathing fatty BM's trouble digesting food
describe the cause of cystic fibrosis
autosomal recessive inheritance (you can have different mutations in each copy of the gene - you only have a treat one copy)
mutations of long arm of chromosome 7 - CFTR protein (cystic fibrosis transmembrane regulator)
CFTR protein is a chloride channel - deltaF508
on mucous surfaces, chloride channel usually allows chlorine out of the cell in presence of cAMP and into lumen, CF occurs when CFRT is <3% normal
this causes increased re-absorption of sodium from fluid in the lumen –> reduced excretion of water
describe symptoms of CF
persistent cough
frequent chest infections throughout life
frequent course of antibiotics
occasional chest infections
describe signs of CF
auscultation - crackles in both upper zones
CT scan - honeycomb lung
describe tests of CF
Del508
confirms the diagnosis
high resolution computed tomography (HRCT)
describe the difficulties of CF
massive treatment burden
much treatment is preventative
complications can be rapid in onset
describe prophylactic management of CF
antibiotics;
staphylococcus aureus colonised - oral fluclox, oral septrin
pseudomonas colonised - oral azirthromycin, nebulised colomycin, nebulised tobramycin, nebulised aztreonam, inhaled tobramycin, inhaled cipro
describe management of the pancreas during CF - exocrine failure
sludged up ducts
failure of secretion of lipases and amylase
digestive failure
treatment - CREON (without this, patients cannot absorb energy)
describe management of the pancreas during CF - endocrine failure
destruction of pancreatic islet cells
fatty replacement of pancreatic tissue
treatment - OGTT, CGMS, insulin (may have insulin production failure)
describe management of bowels during CF
distal intestinal obstruction syndrome (DIOS) thick mucus blocks up the large and small intestine symptoms similar to constipation treatment; gastrograffin laxido fluids prevention; laxido hydration keep moving
describe management of the liver during CF
sludging of hepatic ducts - intraheptic, extraheptic
portal hypertension - porto-systemic anastomoses, variceal bleeding, hepatic encephalopathy
treatment;
TIPSS - reduces anastomoses, reduction in bleeding, can increases encephalopathy
describe exacerbation management
antibiotics;
frequent, high burden, always 2 antibiotics
oral - augmentin, fluclox, minocycline, septrin, fusidin, ciprofloxacin
IV;
pseudomonas - tazocin, cefazidime, tobramicin, meropenem, colistin
staph aureus - fluclocaxcillin, tigecycline
cepacia - temocillin
physiotherapy;
autogenic drainage
ACBT
with or without a physiotherapist
adequate hydration
increased dietary input;
dietician
describe the G55ID mutation
the celtic gene type III mutation normal CFTR delivered to epithelium normally non-functioning channel
describe IVACAFTOR
CFTR potentiator improves chloride flow through the CFTR expensive tablet, twice a day works for G55ID mutation
describe ways to target genes in CF
direct effects on protein post translational modification RNA editing increased transcription gene replacement
