An immunoreactive trypsinogen assay is used to diagnose it, and patients often develop blockage of the vas deferens and clubbing in extremities.
The severity of this disease is correlated with mutations in the neutrophil-associated gene IFRD1. Mutations that cause it include abolishing a splice donor in the MSD1 domain of the affected protein, though more commonly the NBD1 domain is affected. An immunoreactive trypsinogen assay is used to diagnose it, and patients often develop blockage of the vas deferens and clubbing in extremities. Most commonly caused by the delta-F508 mutation in a namesake chloride channel, it is diagnosed using a sweat test and is managed by percussing the chest and back of patients daily. For 10 points, name this autosomal recessive disease that causes buildup of mucus in the airway.
The severity of this disease is correlated with mutations in the neutrophil-associated gene IFRD1.
{Cystic fibrosis}