As we learn more about variation within the CFTR gene, our understanding of the phenotypic spectrum of conditions related to CFTR dysfunction grows. This session will focus on the challenges of diagnosis, variant interpretation, and provision of counseling for individuals who may present to a CF clinic or who have had genetic testing, but who do not clearly have CF.
The relationship between CFTR dysfunction and pancreatitis, the potential under-recognition of symptomatic CF carriers, and complicated or unclear diagnostic scenarios will all be explored.
19 ноя 2020
