Centre de référence
des maladies rares
du pancréas

Genetic Pancreatitis Related To CFTR Mutations

What is CFTR-related genetic pancreatitis?

Pancreatitis with autosomal recessive transmission favoured by mutations of the CFTR gene (Cystic Fibrosis Transmembrane Conductance Regulator), coding for the chloride channels of ductal cells.

This is a factor causing a predisposition to pancreatitis, even in the absence of patent cystic fibrosis.

Prevalence is one to nine per 100,000.

How is it diagnosed?

The diagnosis of a CFTR mutation is done via genetic testing after getting the patient's written consent.

Sources: Reference Centre for Rare Pancreatic Diseases and Disorders

Relevant reference centre: PaRaDis

Association pour les pancréatites chroniques héréditaires (French Chronic Hereditary Pancreatitis Association): A.P.C.H