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Radiology versus Clinical

MAC & Bronchiectasis | Last Active: Jul 7, 2025 | Replies (17)

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@annalaine interesting re study of BE patients heterozygous for PCD. Can you provide a link or citation for that study? I also had a couple single gene hits for PCD, but like you was told there needed to two copies to be diagnostic. I also have no history of lung infections. None of my doctors have shown any interest in looking further at PCD.

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Replies to "@annalaine interesting re study of BE patients heterozygous for PCD. Can you provide a link or..."

I may have saved it and will look through my bookmarks. I think they are finding more instances of autosomal recessive diseases where there can be some limited effects. I have hereditary hemochromatosis and both my parents are carriers and they do store a little more iron than the average person. As I mentioned - I do have some associated conditions with PCD such as the inherited malrotation which is relatively rare. Even though the pulmonologist I saw was dismissive of the BE he was somewhat interested in the PCD and the possibility my cilia being mildly affected. I’ll see if I can find the study.

Still looking. I found a reference to the info regarding heterozygous AAT carriers in an NJH cohort on another website and thought I had found the table showing the AAT patients along with other bronchiectasis associated conditions. Hopefully not a false memory. I’ll keep looking.

Unfortunately I think without having a double mutation or a compound set of mutations on the same gene, it is very hard to get a diagnosis. Technically with the chronic congestion and malrotation I have 2 out of 4 criteria which qualifies me for further testing. Given my genetic status and lack of infection history I doubt further testing would be recommended. Genetics is so complex but diagnostic guidelines are often very rigid. I think there is a lot of grey area.