Cystic Fibrosis Flashcards
What type of genetic condition is CF?
Autosomal recessive. Most common mutation in Caucasians
The gene of which molecule is affected in CF?
CFTR- Cystic Fibrosis Transmembrane Regulator gene
Which ion’s movement is regulated by the CFTR?
Chloride
What two ion changes are caused due to CFTR defect?
In the airways-
- Defective Cl secretion
- Increased sodium absorption
The ion changes can lead to what changes in the airway?
- Ion transport
- Altered secretions
- Blocked duct, impaired mucosal defence
- Recurrent infection
What are the multi-system effects of CF? (6)
- Salty sweat
- Recurrent bac infections
- Intestinal blockage
- Fibrotic pancreas
- Gallbladder + liver disease
- Filled sinuses
What happens in Class I-V defects of the CFTR gene?
I- No CFTR synthesis II- CFTR Trafficking defect III- Dysregulation of CFTR IV- Improper Cl conductance V- Reduced CFTR synthesis
Which gene mutation is most common in CF?
F508Del. Lumacaftor- specific drug for F508del mutation
What are the treatment options for CF infections of
a) Staph Aureus
b) Pseudomonas
a) Oral Fclucloxicilline or Septrin
b) Oral Azithromycin or nebulised tobramycin
What are the different pathological effects seen in exocrine and endocrine pancreatic dysfunction?
- Exo- sludged up ducts, failure to produce lipase & amylase hence trouble digestion
- Endo- destruction of pancreatic islet cells, fatty replacement of pancreatic tisue
Treatment for exo and endo pancreatic problems?
Exo -CREON (pancreatic enzyme therapy)
Endo- CGMS
What happens in bowel problems related to CF?
Thick mucus blocks large & small intestine
Treatment- Gastrograffin , Laxido
What are the common effects of CF on the liver?
- Sludging up of hepatic ducts
- Portal hypertension
- TIPSS
What is the effect of the G551D mutation on CFTR gene?
Type III defect- Dysregulation of CFTR
What is the effect of Ivacaftor?
Improves CL flow through CFTR.
