Page 2 of 3 FirstFirst 123 LastLast
Results 11 to 20 of 25

Thread: Negative sweat chloride, cf still possible?

  1. #11
    Junior Member
    Join Date
    Mar 2018
    Posts
    5
    Has Primary Ciliary Dyskinesia been considered? My son has this (I am on this forum because it's so rare that the only management available for it is based on CF management). PCD is often missed/misdiagnosed- his pulmonologist says it's probably more common than CF, but it's rarely diagnosed.

  2. #12
    Junior Member
    Join Date
    Feb 2018
    Posts
    11
    I have never heard of this, but I will definitely look into it. My son just saw his pulmonologist yesterday and he ordered a bronchoscopy for next Friday and he gave the okay for genetics to do cf testing and immunology is doing a blood work up as well.
    Do you know how itís diagnosed and what all the symptoms are? Thanks for commenting btw!

  3. #13
    Junior Member
    Join Date
    Feb 2018
    Posts
    11
    Thanks for the input. Did you have the full ambry panel workup? The pulmonoligist agreed itíd be a good idea just to rule it out since we are running out of ideas.

  4. #14
    Junior Member
    Join Date
    Mar 2018
    Posts
    5
    Usually symptoms like chronic wet cough, runny nose, frequent infections (especially ear infections in younger children), frequent pneumonia, unidentified respiratory distress after birth, etc, (often people who they thought had CF but tested negative, or even misdiagnosed with asthma) will often prompt them to test for PCD. My son has Situs Inversus (mirrored internal anatomy) which they found when he was born. 50% of people with PCD have Situs Inversus, so they suspected his very early.

    A diagnosis will come from a biopsy (nasal or lungs) looking at the ciliary structure, and/or positive genetics tests. Unfortunately, both of these could potentially come back negative, and someone could still have PCD. PCD can be caused by abnormal ciliary structure, inability of ciliary to "beat" properly, or a combo of both. A biopsy would only show structural abnormalities. And even if genetics tests are negative, not all the genes that cause PCD have been identified.

    It's definitely worth looking into. His respiratory symptoms seem very similar to many PCD cases. And if it is, it's always best to catch it early!

  5. #15
    Junior Member
    Join Date
    Feb 2018
    Posts
    11
    Thank you for all the information! Hopefully they will do a biopsy when they do his bronchoscopy on Friday so we can figure it all out. Iíll let you know if they figure it out though. He also has the genetic testing for Cf done the same day.
    I also just discovered today that he has no antibodies for pneumococcal so he had to get a vaccine to see if it helps, and if not, that could be part of why he is so often sick. So we are finally getting some answers soon hopefully!

  6. #16
    Junior Member
    Join Date
    Feb 2018
    Posts
    11
    Nasal biopsy came back negative for PCD but we are still waiting for genetic testing for cf to come back.

  7. #17
    Junior Member
    Join Date
    Feb 2018
    Posts
    11
    Genetic testing is negative. On to trying to figure out our next step to get a diagnosis! Thanks for all the help and input.

  8. #18
    Hi,

    I have PCD that was diagnosed a few years ago at 49. Not sure what genetic testing was done, but thought I would mention my nasal biopsy done 20 years ago came back structurally normal even though I had it. Pneumonia, ear infections, and sinusitis was very common for me in childhood and I had a negative CF sweat test. I am assuming that the doctors have checked on acid reflux/ aspiration issues as a possibility. If the issues are stemming from the clearance on mucus then you may be interested in contacting one the following clinics that are participating in the GDMCC. They may have ideas or be able to look at the information differently.
    https://www.rarediseasesnetwork.org/cms/gdmcc

  9. #19
    Junior Member
    Join Date
    Feb 2018
    Posts
    11
    Wow, this is super interesting. He had genetic testing for cf after much pushing but I didnít get him genetically tested for pcd. Maybe I should continue to push for that as well, if we donít get answers with some
    Labs Iím waiting on. He does have reflux, but does not aspirate. He has the multiple ear infections and has had pneumonia 3 times in his life and is 2. Iím
    Not sure heís been diagnosed with sinutis though? But thank you! Iíll definitely look further into this.

  10. #20
    Junior Member
    Join Date
    Mar 2018
    Posts
    5
    Yes, biopsies often come back negative for PCD when, in fact, the person has PCD. Ciliary structures can be intact, but are still dysfunctional in their mobility. Also, ciliary biopsies are very difficult to do well- sometimes that can come back negatively just because they were not done correctly. Genetic testing for PCD can come back positively, negatively, or inconclusively (because not all PCD causing genes are known). Still worth pushing for, genetically.

    There is also a strong correlation between reflux and PCD. There's a study that found that 3/5 kids with PCD also had reflux that continued on to adulthood.

    Sinus cavities (except for the ones behind the cheeks and between the eyes) won't start developing until kids are 5 years old and then again at around 7 or 8, so he may not have sinus troubles yet.

Posting Permissions

  • You may not post new threads
  • You may not post replies
  • You may not post attachments
  • You may not edit your posts
  •