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MAC & Bronchiectasis | Last Active: 3 days ago | Replies (17)
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In summary, p.S895N alone is unlikely to cause bronchiectasis, as it appears to be a mild or benign polymorphism more common in East Asians. However, in combination with other CFTR variants, it may contribute to CFTR-related bronchiectasis in Asian individuals, though CF and related disorders remain rare in Asia compared to Caucasian populations. Genetic counseling and testing for compound variants would be recommended for definitive assessment in at-risk individuals.
Replies to "In summary, p.S895N alone is unlikely to cause bronchiectasis, as it appears to be a mild..."
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@helen1000
Helen, I had BE for 19 years , then was tested for cf in 2025. They found one variant, so not full blown cf but, according to my pulmonologist, it is the major risk factor for my BE. A sweat test at NJH a few years ago was in the high normal range so they did not do the genetic testing. My pulmonologist (Emory in Atlanta) who ordered it did so based on my CT scan and the patterns he saw in it. They should be able to run full genetic testing to see if you have more variants. Since it’s genetic, I don’t see how you could develop more variants- they’re either there or not. Good luck going forward