bronchiectasis with or without elevated sweat chloride 1

Bronchiectasis with or without elevated sweat chloride 1 is a condition primarily affecting the respiratory system, characterized by abnormal dilation of the airways. It is associated with changes in the SCNN1B gene, which plays a role in ion transport and salt balance in epithelial cells. The condition is inherited in an autosomal dominant manner, meaning a single copy of the altered gene can lead to the condition. Although precise prevalence data are not available, its presentation is recognized as part of a spectrum that can vary widely among affected individuals.

A key clinical feature of this condition is the presence of elevated sweat chloride levels, observed in approximately 5% to 29% of cases. The term bronchiectasis in the name reflects the structural lung changes that may develop over time, contributing to respiratory symptoms. Some affected individuals may experience mild respiratory discomfort while others could develop more significant airway issues as the condition evolves. That not all individuals experience all features, and severity varies considerably from person to person.

Bronchiectasis with or without elevated sweat chloride 1 is caused by variants in the SCNN1B gene, which is crucial for the proper function of ion channels that regulate salt balance across cell membranes. The condition is inherited in an autosomal dominant pattern, meaning that having one altered copy of the gene is sufficient to affect the protein’s function. This pattern of inheritance implies that a parent with the condition has a 50% chance of passing the variant to their offspring. Given the variability in clinical presentation, genetic counseling is recommended to help families understand the implications of this genetic change. Associated genes include SCNN1B.