Candace,<br>
I'm the anon who posted about my ds, Ty. In answer to your
question, no, I really don't think CF and PCD are related in
anyway. Clinical presentation is very similiar, as are the
end result and the treatments but the cause of the disease is very
different.<br>
<br>
My rudimentary understanding of CF is that it is caused by the
absence or malfunction of CFTR, a protein that creates a channel
that allows chloride ions to pass through the cell. When this
protein is absent or malfunctioning, chloride builds up and cannot
pass through the cell. The end result is that the mucous that
the body produces is thicker and stickier. The thicker,
stickier mucous builds up, causing blockages and plugs. The
plugs in the lungs and sinuses become a breeding ground for all
sorts of bacteria. <br>
<br>
PCD on the other hand, is caused by a malfunction in the cilia.
Cilia are the hairlike structures lining mucous membranes.
Healthy cilia beat in an organized fashion to move the mucous
through the body, and out. In a person with PCD, the cilia
are defective. In some cases the cilia do beat but not
effectively enough to clear secretions from the body. In
other cases, the cilia do not beat at all. The end result is
that the mucous gets stuck and becomes a breeding ground for all
sorts of bacteria. The stagnant, infected mucous does become
thicker and stickier just from sitting around, but it is <b>not</b>
thicker and stickier when it's originally produced like it is
with a CFER. Also, roughly half of the people with PCD also
have reversal of their organs (heart on the right instead of the
left, etc.) This isn't common in people with CF at all.
PCD is also much less common - roughly 1 in 16,000 have PCD
(1 in 32,000 have Kartagener's which is PCD with organ reversal).
On the other hand, roughly 1 in 2,500 people have CF.
There have been some studies comparing the two. They
found that people with CF have normally functioning cilia while
people with PCD have normally functioning CFTR. Like CF, PCD
does have a wide range of presentation with some very sick from
infancy and others not diagnosed until adulthood. Since CF is more
common, and the tests for it are much less invasive then the tests
for PCD, CF is almost always tested for first since the clinical
presentation is so similiar (lung and sinus infections, male
infertility, etc.) A lot of researchers think the incidence
rate for PCD is really much higher than the 1 in 16,000 but that a
lot of people go undiagnosed since it's not a common disease to
test for.<br>
<br>
As far as my son, at this time he's just diagnosed with asthma,
allergies, chronic sinusitis, and GERD. PCD can only be
diagnosed conclusively with a cilia biopsy. It's an invasive
procedure that requires sedation to perform on children. We
(dh, I, and the doctors) all agree that when ds has his next sinus
surgery, he should be tested for PCD. We also all agree that
we won't do another sinus surgery until either ds is older or his
symptoms are so severe that we can't medically manage them.
Yes, he has significant sinus disease but with medicines he's
managing fine and his asthma is finally well controlled. He's
considered neg for CF because his SWCL was 9 and his genetic test
through genzyme was neg. My gut says he probably doesn't have
PCD either. People with PCD usually have lots of ear
problems. DS did have dozens of ear infections when he was
younger but has only had a couple in the last 5 years and all 3 of
my children had recurring ear infections, recurring strep
infections, and all have asthma. The other two have had
completely normal CT scans of the sinuses. One has lung
damage from having pneumonia several times as a baby (she's also my
highly allergic child), and the other one has never had normal PFTs
even after prednisone bursts and on high doses of advair. My
daughter was sweat tested, too, because of the recurring pneumonia
and asthma and her SWCL was 10. <br>
<br>
Do any of your other children have similiar health issues as your
ds or are they all healthy? How did the ENT appt go?
