Cystic Fibrosis screen positive, inconclusive diagnosis (CFSPID) to Cystic Fibrosis: Detecting disease with serial assessments.

Abstract excerpt

We present the case of a child given a CFSPID designation in early life who was later reclassified as having CF based on a combination of recurrent respiratory symptoms and CFTR functional testing, despite normal sweat chloride levels. Here we demonstrate the importance of monitoring these children, each time reviewing the diagnosis based on updated understanding of individual CFTR mutation phenotypes or clinical...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Child
• Share to Cystic Fibrosis
• Share to Cystic Fibrosis Transmembrane Conductance Regulator