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
