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Cystic fibrosis (CF) (Complications (Gastro-liver Small bowel obstruction…
Cystic fibrosis (CF)
Complications
Gastro-liver
Small bowel obstruction
Gallstones
Liver cirrhosis
Secondary DM
Malnourishment
Musculoskeletal
Osteoporosis
Arthritis
Hypertrophic pulmonary osteoarthropathy
Clubbing
Genitourinary
Subfertility/infertility (males)
Cardiovascular
Cor pulmonale due to fibrosis of lungs
and increased intra-pulmonary pressure
Respiratory
Respiratory failure
Bronchiectasis
Pneumothorax
Recurrent RTIs
ENT
Sinusitis
Nasal polyps
Clinical
presentation
Cough
Wheeze
Recurrent RTIs
Haemoptysis
Diagnosis
Examination
Respiratory
Clubbing, cyanosis, hyperexpanded chest,
reduced expansion, widespread fine crackles,
coarse crackles if superimposed infection, sputum
Investigations
Bloods
Newborn heelprick test
ABG (resp failure), FBC (infection), CRP, U+E,
LFTs (cirrhosis), clotting (liver impairment),
glucose (DM),lipids, vitamins (ADEK, fat soluble)
DNA screening for common defects
Samples
Sputum culture (infection)
Stool culture (faecal elastase - pancreatic function)
Bedside
CF sweat test (high Na and Cl)
Imaging
CXR - hyperinflation, bronchiectasis
Abdo USS - fatty/cirrhotic liver, pancreatitis
Special tests
LFTs - obstructive defect
History
DH
Current meds, allergies
FH
CF, bronchiectasis,
other lung diseases
PMH
Known CF, DM, liver disease
SH
Living arrangements, occupation,
smoking, alcohol
PC/HPC
Meconium ileus in neonate, failure to thrive,
growth failure in children, delayed puberty,
recurrent UTIs, cough and wheeze
Epidemiology
1/2000 UK
Caucasians
Pathophysiology
Mutation
Mutation in CFTR Cl channel on epithelial cell membranes
(lung, pancreas, GIT, reproductive tract)
Defective Cl secretion, increased Na absorption (thus water)
Results in increased viscosity of mucous and inc NaCl in sweat glands
Development
Lungs normal at birth
Recurrent infections causing inflammation and fibrosis
Get bronchiectasis and airflow obstruction, thus resp failure
Small bowel obstruction (meconium ileus)
Often infertility (particularly males)
Definition
Autosomal recessive respiratory condition
causing altered airway secretions and
predisposing to infections
Managemengt
Prognosis