Cystic Fibrosis Flashcards
Epidemiology of Cystic Fibrosis
1 in 25 people carry the gene
What happens when the Cystic Fibrosis Transmembrane conductance Regulator does not work?
The ATP- regulated Na and Cl channels don’t work
More Na comes into the cell and less Cl goes out
Water flows into the extracellular space
Consequences of CF
Salty sweat Intestinal blockage Fibrotic pancreas Failure to thrive Recurrent bacterial infections Congenital bilateral absence of Vas deferens Failed sinuses Gallbladder and liver disease
Biochemical phenotype of defects in the CFTR
Class 1: No CFTR synthesis
Class 2: CFTR trafficking defect (protein made but incorrectly. cannot pass through golgi)
Class 3: Dysregulation of CFTR (channel can’t open)
Class 4: Defective chloride conductance or channel gating
Class 5: Reduced CFTR transcription and synthesis
Prophylactic antibiotics if S. Aureus colonised?
Oral fluclox
Oral Septrin
Prophylactic antibiotics if pseudomonas colonised?
Oral Azithromycin Nebulised Colomycin Nebulised Tobramycin Nebulised Aztreonam Inhaled Tobramycin
Exocrine failure of the pancreas
Sludged up ducts
Failure of secretion of lipase, amylase
Digestive failure
Treatment for exocrine failure
CREON
Endocrine failure of pancreas & treatment
Destruction of pancreatic islet cells
Fatty replacement of pancreatic tissue
Need insulin
Distal Intestinal Obstruction Syndrome
Thick mucus blocks up the large and small intestine
Symptoms similar to constipation
DIOS prevention and treatment
Prevention: Keep running Laxido Hydration Treatment: Gastrograffin Laxido Fluids
Issues in liver from CF
Sludging of hepatic ducts
Portal hypertension
Effects of portal hypertension
Porto-systemic anastomoses
Variceal bleeding
Hepatic encephalopathy
Treatment for portal hypertension
TIPSS (shunt)
G551D mutation
Class 3 mutation Normal CFTR Delivered to epithelium normally Non-functioning channel Doesn't open properly
