Cystic Fibrosis Diagnosis in Newborns, Children, and Adults

Carlo Castellani, MD; Barry Linnane, MB, BCh, BAO, DCH, MRCPI, MRCPCH, MD; Iwona Pranke, PhD; Federico Cresta, MD; Isabelle Sermet-Gaudelus, MD, PhD; Daniel Peckham, MD


Semin Respir Crit Care Med. 2019;40(6):701-714. 

In This Article

Presentation of Late Diagnosis of Cystic Fibrosis

Patient outside NBS but with a suspected diagnosis of CF should be referred for appropriate assessment and investigations including functional and genetic analysis. This should include a detailed history and examination which can often lead to a suspicion of CF even in the absence of investigations. Lung function, sputum cultures, liver function tests, and fat-soluble vitamin levels should be undertaken as well as investigation to exclude differential diagnoses such as immunodeficiencies, primary ciliary dyskinesia, and other causes of non-CF bronchiectasis.

Plain chest radiographs are an insensitive tool for assessing bronchiectasis and other lung pathologies. High-resolution chest computed tomography should be considered in patients with CFTR dysfunction to assess the presence or absence of CF-related lung disease. Other key investigations include abdominal ultrasound (US) to evaluate the pancreas, fecal elastase to assess pancreatic function, and sperm analysis to look for azoospermia.