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

Respiratory Disease

Patients with a late diagnosis of CF may present with a wide spectrum of symptoms and diagnoses including cough, chronic sputum production, asthma, obstructive lung disease, and a label of non-CF bronchiectasis. It would be presumptive to assume that a diagnosis of CF has been excluded in all cases even in those who have had a so called historical "negative screen" (Table 2). Some older patients would have been investigated at a time before effective genetic screening and when an intermediate sweat Cl< 60 mmol/L was regarded as normal.

Patients with late presentation of CF often give a history of symptoms in childhood with or without nasal polyps and sinus disease. However, some patients only become symptomatic later in life, often following a trigger such as acute viral or bacterial pulmonary infections. Sputum culture isolates with CF pathogens such as S. aureus and P. aeruginosa, as well as the presence of diffuse bronchiectasis with upper lobe predominant, are features which point toward a diagnosis of CF.[126] Investigations should also be undertaken in individuals presenting with non-pulmonary features of CF including male infertility, recurrent or chronic pancreatitis, and pancreatic malabsorption.[126]