In the long human struggle to name and treat the diseases that steal breath, researchers have found a hidden culprit: a single amino acid change in the WFDC2 gene that mimics cystic fibrosis so closely that patients have spent years without a true diagnosis. Identified primarily in Korean families, this mutation disrupts a protein that normally quiets overactive sodium channels in the lungs, leading to the same thick, suffocating mucus that defines cystic fibrosis — yet arising from an entirely different genetic origin. The discovery not only offers a name to those long without one, but points
WFDC2 Gene Mutation Linked to CF-Like Disease; Amiloride Shows Promise in Mice
Patients with WFDC2 mutations experience severe chronic airway disease with respiratory distress, bronchiectasis, and chronic rhinosinusitis.