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

Diagnosis by Symptoms

CFTR dysfunction results in a wide spectrum of clinical phenotypes ranging from an asymptomatic individual with male infertility to overt bronchiectasis and pancreatic malabsorption. These differences reflect the level of CFTR expression in combination with environmental influences and the presence or absence of genetic modifiers. Some patients may remain asymptomatic with no evidence of clinical disease while others may deteriorate in later life.

Clinicians need to be aware of the wide spectrum of clinical features associated with CF as late diagnosis in early adolescence and adulthood is not uncommon with some individuals still presenting with the classical triad of bronchiectasis, male infertility, and pancreatic insufficiency (Table 1). Patients who are diagnosed in adulthood tend to have a milder genotypes and phenotypes than those diagnosed in childhood although difference becomes less apparent over the age of 40 years.