Inherited Metabolic Diseases

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

• Features

  • recurrent respiratory tract infections

  • irreversible lung disease

  • pancreatic insufficiency

    • leads to malabsorption

    • 11% can develop diabetes mellitus

  • 95% males sterile

• Diagnosis

  • sweat sodium concentrations >80 mmol/l are diagnostic

  • infants have high concentration of immunoreactive trypsin

• Management

  • Physiotherapy

  • prophylactic antibiotics

  • good diet

  • (?gene therapy)

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