What are the key clinical features to consider when diagnosing cystic fibrosis in a child presenting with respiratory symptoms?

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 ¹. This includes:
  • Recurrent lower respiratory tract infections ¹, also described as recurrent respiratory infections (Chen et al., 2021).
  • A chronic wet or productive cough ¹,³.
  • Clinical or radiological evidence of lung disease, particularly bronchiectasis ¹.
  • Persistent chest X-ray changes ¹.
  • Chronic sinus disease and nasal polyps, with prevalence increasing with age ¹.
  • Wheezing (Chen et al., 2021).

Other Important Clinical Features (especially relevant in children):

• Faltering growth in infants and young children ¹, or generally faltering growth (Chen et al., 2021).
• Undernutrition ¹.
• Malabsorption ¹, 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 ¹ (Chen et al., 2021).
• Congenital intestinal atresia ¹.
• Symptoms and signs suggesting distal intestinal obstruction syndrome ¹.
• Rectal prolapse in children ¹.
• Pseudo-Bartter syndrome ¹.

If these clinical manifestations are present, assessment for CF should be undertaken, and a sweat test should be performed for children and young people ¹. Referral to a specialist CF centre is indicated if CF is suspected, even if initial test results are normal ¹. Testing for CF, such as sweat chloride or gene testing, is recommended for all children with suspected bronchiectasis ².