Table 1 WHO diagnostic list for single organ disease phenotypes associated with CFTR mutations2.
Isolated obstructive azoospermia* |
Chronic pancreatitis* |
Allergic bronchopulmonary aspergillosis* |
Disseminated bronchiectasis* |
Diffuse panbronchiolitis* |
Sclerosing cholangitis* |
Neonatal hypertrypsinogenaemia |
*At least one CFTR mutation identified.
It is likely that this classification will need further revision in the future as our knowledge and understanding of these conditions increase.2