Cystic Fibrosis Flashcards Preview

Respiratory Diseases > Cystic Fibrosis > Flashcards

Flashcards in Cystic Fibrosis Deck (8)
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1
Q

what is it

A

alteration of viscosity and tenacity of mucus

2
Q

what is genetics of it

A

autosomal recessive, 1 in 25 people carry CFTR gene

3
Q

what are respiratory effects

A

commonest cause of recurrent bronchopulmonary infection in childhood

4
Q

what is GI effects

A

85% of patients have steatorrhoea (excretion of fat with faeces) due to pancreatic dysfunction or insufficiency

5
Q

what are other symptoms

A
biliary disease
high sodium sweat
malnutrition 
puberty and skeletal maturity delay 
males almost always infertile
6
Q

how is it diagnosed

A

sweat test confirms in 98%
molecular test for CFTR gene
sinux XR/CT - show opacification of sinuses
CXR or CT thorax

7
Q

how is it treated

A

symptomatic
G551D - Ivecaftor
F508Del - lumacaftor

8
Q

what are complications

A

most of morbidity due to respiratory disease eg bronchiectasis, progressive airflow destruction, cor pulmonale, death