Clinical presentation | Number of patients | Percentage of patients (%) |
---|---|---|
Acute or persistent respiratory symptoms | 24 | 46.2 |
Failure to thrive or malnutrition | 21 | 40.4 |
Dehydration and or electrolyte imbalance | 17 | 32.7 |
Steatorrhea or other gastrointestinal symptoms | 7 | 13.5 |
Meconium ileus or other intestinal obstruction | 5 | 9.6 |
Prenatal screening (amniocentesis or chorionic villus sampling) | 3 | 5.8 |
Family history and genotyping | 3 | 5.8 |
Neonatal screening | 2 | 3.9 |
Nasal polyposis and/or sinus disease | 1 | 1.9 |
Unknown presenting symptoms | 6 | 11.5 |