When a child presents with respiratory symptoms, several key clinical features should prompt consideration of cystic fibrosis (CF) for diagnosis. CF is a multi-systemic disease, primarily affecting the respiratory and digestive systems Radlović 2012.
Respiratory Clinical Features:
- Recurrent and chronic pulmonary disease is a significant indicator NICE NG78. This includes:
- Recurrent lower respiratory tract infections NICE NG78, also described as recurrent respiratory infections Chen et al. 2021.
- A chronic wet or productive cough NICE NG78,NICE CKS.
- Clinical or radiological evidence of lung disease, particularly bronchiectasis NICE NG78.
- Persistent chest X-ray changes NICE NG78.
- Chronic sinus disease and nasal polyps, with prevalence increasing with age NICE NG78.
- Wheezing Chen et al. 2021.
Other Important Clinical Features (especially relevant in children):
- Faltering growth in infants and young children NICE NG78, or generally faltering growth Chen et al. 2021.
- Undernutrition NICE NG78.
- Malabsorption NICE NG78, often presenting with steatorrhea Chen et al. 2021.
- Meconium ileus in newborns, which is a classic presentation affecting about 1 in 7 newborn babies with CF NICE NG78 Chen et al. 2021.
- Congenital intestinal atresia NICE NG78.
- Symptoms and signs suggesting distal intestinal obstruction syndrome NICE NG78.
- Rectal prolapse in children NICE NG78.
- Pseudo-Bartter syndrome NICE NG78.
If these clinical manifestations are present, assessment for CF should be undertaken, and a sweat test should be performed for children and young people NICE NG78. Referral to a specialist CF centre is indicated if CF is suspected, even if initial test results are normal NICE NG78. Testing for CF, such as sweat chloride or gene testing, is recommended for all children with suspected bronchiectasis NICE CKS.