ECFS standards of care on CFTR-related disorders: Identification and care of the disorders

The European Cystic Fibrosis Society (ECFS) and its Standards of Care Committee and Diagnostic Network Working Group have launched a project to update recommendations on the diagnosis and management of cystic fibrosis transmembrance conductance regulator (CFTR)-related disorders (CFTR-RD). Two of the four planned documents addressing the general considerations of the definition and management of CFTR-RD have been published in the Journal of Cystic Fibrosis [1,2]. This third paper of the series examines in more depth the characteristics of the well established disorders that are either occasionally or commonly related to CFTR dysfunction - these are congenital absence of the vas deferens (CAVD), disseminated bronchiectasis and chronic or acute recurrent pancreatitis.

Source: Journal of Cystic Fibrosis - March 21, 2024 Category: Respiratory Medicine Authors: N.J. Simmonds, K.W. Southern, E. De Wachter, K. De Boeck, F. Bodewes, J.G. Mainz, P.G. Middleton, C. Schwarz, V. Vloeberghs, M. Wilschanski, E. Bourrat, J.D. Chalmers, C.Y. Ooi, D. Debray, D.G. Downey, P. Eschenhagen, E. Girodon, G. Hickman, A. Koitschev, Tags: Original Article Source Type: research