Anne Munck

TL;DR: The conclusions of a consensus conference to address the use and interpretation of CF mutation analysis in clinical settings are described, including the use of CFTR genotype for prediction of prognosis in people with CF at the time of their diagnosis is not recommended.

TL;DR: A proposal for consensus guidelines on cystic fibrosis transmembrane conductance regulator ( CFTR)-related disorders (CFTR-RDs), reached after expert discussion and two dedicated workshops is presented.

TL;DR: A consensus process using a modified Delphi method has enabled input of CF specialists from a wide geographical area to a rigorous process that has provided a clear pathway to a consensus statement.

TL;DR: Patients with intermediate sweat chloride values and two CFTR mutations or an abnormal NPD measurement have a CF-like phenotype compatible with CFTR dysfunction and, as a group, differ phenotypically from patients with intermediate sweating chloride values in whom further CF diagnostic tests are normal as well as from CF-PS and CF-PI patients.

TL;DR: This paper contains a number of changes from previous guidance in light of developing evidence, but the major change is the recommendation of a detailed assessment of the child with CRMS/CFSPID in the sixth year of age, including respiratory function assessment and imaging.