Please enable JavaScript.
Coggle requires JavaScript to display documents.
Respiratory: Cystic Fibrosis - Coggle Diagram
Respiratory: Cystic Fibrosis
Genetics
autosomal recessive
CFTR gene
chromo 7
chloride channel
abnormal transport of sodium and chloride
results in thickened secretions in bronchi, biliary tree, pancreas, intestines + reproductive tract
Class 1: no CFTR
Class 2: does not reach surface (ΔF508)
Class 3: doesn't work properly (G551D)
Class 4: faulty ion channel
Class 5: not enough CFTR
Sx + Signs
Chronic productive cough
Sinusitis
SOB
Meconium ileus
FTT
Rectal prolapse
volvulus
Steatorrhoea
malabsorption
anaemia
Pancreatitis
DM
cirrhosis
Male infertility (Bilat absence of vas deference)
Reduced female fertility
low BMI
Clubbing
Nasal polyps
Investigations
Newborn heelprick: immunoreactive trypsinogen
CFTR genetic test
Chloride sweat test
Nasal Potential Difference
FBC
CRP
LFTs
Faecal elastase (pancreatic insufficiency)
Sputum C&S
OGTT
PFTs
Mixed restrictive/ obstructive features
Used to monitor FEV1 response to therapy + decide to refer to transplant
Grading: CF ABLE (age, BMI, lung function, exacerbations)
Management
smoking cessation
vaccines
Portable oxygen if desaturating on exertion
Physiotherapy
Mucolytics: DNAase (pulmozyme), hypertonlic saline (7%)
For pseudomonas
Inhaled antibiotics e.g. Tobramycin, Colomycin, Aztreonam, Levofloxacin
Oral macrolides used as anti-inflamm to minimise exacerbations e.g. Azithromycin
Disease modifying meds
Ivacaftor
CFTR potentiator, helps open channel
for G551D
CFTR modulators
Lumacaftor, Trikafta
moves the defective CFTR protein to cell surface
Lung Transplant
considered when baseline FEV1 <30% of
predicted
Nutritional Support
PEG
Creon
Aquadek
insulin
Bile acid binding salts: Ursodeoxycholic acid
Psych support