Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis

What is it about?

We don't know why most people develop bronchiectasis. In this study we looked at the genes of people with bronchiectasis to see if there were problems with the genes that code for cilia function. Cilia are hair like structures that line the airways and sweep mucus out of the lungs protecting them from infection. We found 17 of 142 people with bronchiectasis had an inherited problem with their cilia which wasn't predicted by their doctor. We confirmed our findings in a second group of people with bronchiectasis. Finally we assessed how many people with bronchiectasis in the UK had the tests required to identify problems with cilia genes and found it was less than 1%. We conclude that inherited cilia dysfunction is underdiagnosed as a cause of bronchiectasis. Increased uptake of genetic testing may help to identify bronchiectasis due to cilia problems and will ensure appropriate advice and treatments are given.

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