CF Flashcards
1
Q
Definition?
A
Cysticfibrosis(CF) is anautosomal recessivedisorder caused by a mutation in theCFTRgene, which encodes for thecystic fibrosis transmembrane conductance regulatorprotein. The mutation leads to the production of defectivechloridechannels incell membranesof theexocrine glands, and symptoms are caused by these glands producing abnormally hyperviscous secretions
2
Q
CP?
A
• Recurrent chest infections • Expiratory wheeze • Dyspnoea • Barrel chest and hyperesonance • Haemoptysis • Clubbing • Salty sweat • Osteopenia • Kyphoscoliosis • Kidney stones • Infertility • Absent cycles • Growth delay • Signs of pancreatic disease-steatorrhoea, malabsorption • Liver/bile duct abnormalites Intestinal obstruction-failure to pass meconium/stool
3
Q
M?
A
see ON
