Cystic Fibrosis Flashcards Preview

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Flashcards in Cystic Fibrosis Deck (17):
1

Epidemiology of Cystic Fibrosis

1 in 25 people carry the gene

2

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

3

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

4

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

5

Prophylactic antibiotics if S. Aureus colonised?

Oral fluclox
Oral Septrin

6

Prophylactic antibiotics if pseudomonas colonised?

Oral Azithromycin
Nebulised Colomycin
Nebulised Tobramycin
Nebulised Aztreonam
Inhaled Tobramycin

7

Exocrine failure of the pancreas

Sludged up ducts
Failure of secretion of lipase, amylase
Digestive failure

8

Treatment for exocrine failure

CREON

9

Endocrine failure of pancreas & treatment

Destruction of pancreatic islet cells
Fatty replacement of pancreatic tissue
Need insulin

10

Distal Intestinal Obstruction Syndrome

Thick mucus blocks up the large and small intestine
Symptoms similar to constipation

11

DIOS prevention and treatment

Prevention:
Keep running
Laxido
Hydration
Treatment:
Gastrograffin
Laxido
Fluids

12

Issues in liver from CF

Sludging of hepatic ducts
Portal hypertension

13

Effects of portal hypertension

Porto-systemic anastomoses
Variceal bleeding
Hepatic encephalopathy

14

Treatment for portal hypertension

TIPSS (shunt)

15

G551D mutation

Class 3 mutation
Normal CFTR
Delivered to epithelium normally
Non-functioning channel
Doesn't open properly

16

Treatment for G551D mutation

Ivacaftor
CFTR potentiator
Improves chloride flow through the CFTR

17

Treatment for F508del mutation

Lumacaftor
Binds on to CFTR and changes its shape so it can pass through the golgi and embed into membrane
Must be coupled with ivacaftor