CLIN
Alex Gifford
UH Cleveland Medical Center
Amy Dettori, MD
University of Washington / Seattle Children's Hospital
For decades, clinicians have diagnosed cystic fibrosis by recognizing pathognomonic signs and symptoms, identifying at least one pathogenic CFTR gene variant on each copy of chromosome 7, and obtaining abnormally elevated measurements of sweat chloride and/or immunoreactive trypsinogen (IRT). Clinicians also appreciate that diagnosing cystic fibrosis can be challenging when these indicators are absent, obscure, and/or inconsistent. This symposium highlights challenges to the process of diagnosing cystic fibrosis across the lifespan. Heterogeneous newborn screening practices and unequal access to those services have contributed to late and missed diagnoses. CFTR gene variants of variable clinical consequences (VVCC) can also complicate diagnostic efforts. Clinicians face many unknowns when they use CFTR modulators in patients with questionable diagnoses, and they must also recognize manifestations of CFTR-related disorders (CFTR-RD).
Speaker: Nicholas Simmonds, MD (Res) FRCP – Royal Brompton Hospital