Cystic Fibrosis Flashcards
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
