Cystic Fibrosis

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Cystic Fibrosis

• Approx 1 in 25 of UK population carry gene mutation

• 1 in 2500 live births affected

• Affected gene is cystic fibrosis transmembrane conductance regulator (CFTR)

  • cAMP mediated chloride channel

• deltaF508 mutation accounts for 70% of UK cystic fibrosis

• prenatal screening appropriate

• 95% males sterile

Presentation

• meconium ileus

• recurrent chest infections

History

• Method of Diagnosis

  • sweat sodium concentrations >80 mmol/l are diagnostic

  • infants have high concentration of immunoreactive trypsin

  • lung function

  • pancreatic insufficiency

    • leads to malabsorption

    • 11% can develop diabetes mellitus

Chest

• breathless

• sputum

• Haemoptysis

• wheeze

• infection

• Pneumothorax

GI

• weight loss

• constipation

• Cirrhosis

Cardiac failure

• secondary to pulmonary hypertension

• heart-lung transplant

General

• lethargy in hot weather

• nasal polyps

PMH

• number hospital admissions

FHx

• autosomal recessive

SHx

• who helps with postural drainage

• problems with schooling / employment

Examination

General

• short stature

• reduced muscle bulk

• clubbing

Chest

• cough + sputum

• pneumothorax

• crackles

• wheeze

CVS

• cor pulmonale

Abdo

• cirrhosis

Investigations

• sputum culture

  • haemophilus / psuedomonas

• Pulmonary Function Tests

• CXR

  • increased lung markings

  • consoldation

  • pneumothorax

• FBC

  • anaemia

  • Increased WCC

• U&E

  • salt loss

• LFTs (for cirrhosis)

Management

• Physiotherapy

  • postural drainage

• pancreatic enzymes

• inhalers

• prophylactic antibiotics (?)

• good diet / vitamins

• (?gene therapy)

• Heart-lung transplant

Prognosis

• life expectancy 35 years

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