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

Disclosures

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

In This Article

Recurrent and Chronic Pancreatitis

Pancreatitis is a well-recognized but unusual presentation of CF. It usually occurs on a background of exocrine pancreatic sufficiency (PS) in association with CFTR mutations with residual function and often intermediate and rarely normal sweat chloride.[130–133] In the CF pancreas, progressive ductal obstruction and inflammation result in acinar cell injury with altered secretion of pancreatic fluid and bicarbonate predisposing to pancreatitis.[130] Up to 15% of people with a diagnosis of CF have pancreatic sufficiency with approximately 20% in this group developing pancreatitis. Presentation of pancreatitis often occurs during adolescence and young adulthood and in a minority of cases can be the first manifestation of CF.[133]

Patients with acute recurrent and chronic pancreatitis in the absence of CF have an increased incidence of CFTR mutations which can sometimes make the diagnosis difficult. Surveillance of patients with variable penetrance mutations and absence of lung disease should be initiated as they may develop pancreatic insufficiency, diabetes, and lung disease later in life. The frequency of review will depend on the individual and clinical phenotype.

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