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Perspectives

Paediatric cystic fibrosis. Part 1: diagnosis

Hiep Pham, John Massie

Figures

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© RAFAEL BEN-ARI/ STOCK.ADOBE.COM MODEL USED FOR ILLUSTRATIVE PURPOSES ONLY

Abstract

Pathways to diagnosing cystic fibrosis can occur at different stages. Some children will have gene mutations not detected by newborn screening in Australia, and GPs need to remain alert to clinical presentations of the disease. GPs are also in a prime position to provide genetic counselling for carriers and to promote carrier screening in the community.

Key Points

  • Despite the newborn screening program in Australia, rare genetic mutations may be missed and clinical presentations of cystic fibrosis (CF) can occur.
  • Patients presenting at any age can have milder forms of CF or CF-related disease.
  • Carrier screening for CF is readily available and can be offered to couples planning pregnancy, even if there is no family history of CF.
  • Carriers and their families need genetic counselling, which GPs can provide.

Figures

© RAFAEL BEN-ARI/ STOCK.ADOBE.COM MODEL USED FOR ILLUSTRATIVE PURPOSES ONLY
© RAFAEL BEN-ARI/ STOCK.ADOBE.COM MODEL USED FOR ILLUSTRATIVE PURPOSES ONLY