Let’s switch to another unusual
condition that we should know about,
which is called
This is a congenital difficulty
with cilia in the body.
Remember cilia are
those hairs that beat.
Cilia are tiny hairs that
line the respiratory tract.
They’re sweeping mucus and
debris up out of the airway
so that it can be coughed out of the
lungs and swallowed or spat out.
So in patients with ciliary dyskinesia,
several things can happen.
Mutations in protein cause poor
or no function of these hairs.
This happens in 1 in 16,000 live
births so it’s not that uncommon,
and half of these patients approximately
have Kartagener’s syndrome,
which is mostly
So Kartagener’s syndrome is a
congenital ciliary dyskinesia.
Patients with ciliary dyskinesia
can develop chronic sinusitis.
They can develop serious, serious
and serous otitis media,
very bad otitis, recurrent, but not usually
that really thick purulent material.
About 20% of these patients
will have nasal polyps on exam.
These patients will have chronic cough.
Again, they’re having difficulty
sweeping the mucus out of their lungs,
doesn’t mean they don’t
have the cough reflex,
and they aren’t able to
get it out as well.
Because of the chronic
they will often exhibit clubbing
on exam on their fingers.
And the males will
often have infertility
because cilia are also
responsible for sperm to swim.
So if we remember in Kartagener’s
syndrome, this is a mutation in dynein.
This mutation makes it so that it’s
random which way the body is oriented.
In adults, almost all of us end up
with the heart on the left side,
the liver on the right side,
the spleen on the left side.
In patients with
half of these patients
will have situs inversus.
That is to say all the organs in their
body are switched in their location.
Here’s an x-ray of a
patient with Kartagener’s
and you can notice a normal heart
positioned on the right side of the chest.
I once saw a patient with this and
failed to auscultate heart sounds well
and was very confused until I
figured out the heart sounds
were actually on the
other side of the chest.
Because half of people with ciliary
dyskinesia have Kartagener’s,
only a quarter of patients with ciliary
dyskinesia have situs inversus.
So remember, the majority of
patients with ciliary dyskinesia
do not have situs inversus.
It’s just something you
may see now and then.
So in ciliary dyskinesia,
there are several tests that you
should expect to be abnormal.
A chest x-ray should show
or, in some cases,
Pulmonary function test
should be abnormal.
This patient should have
difficulty with clearing of mucus
and residual lung dysfunction.
And frequently for the diagnosis,
we actually have to go in and get a biopsy
of the lungs and do an electron microscopy,
where you can actually see
the cilia and the defect
and that’s really the way we have to
make this diagnosis definitively.
Alternatively, because there are
other things we’re thinking about,
such as immunodeficiency, we
will check immunoglobulins
and those should be normal,
and oftentimes we might think about
a patient with cystic fibrosis
because of the obvious
overlap of these conditions,
and so, these patients will often undergo a
sweat test, which should also be normal.
We treat ciliary dyskinesia
not unlike cystic fibrosis,
but generally they
have a better outcome.
We will do chest physical therapy,
we will provide antibiotics
based on sputum samples
and do the general treatment of underlying
bacterial colonizing infections
trying to keep those
We will provide therapy for
sinusitis, like nasal steroids,
like antibiotics for acute
and rarely surgery.
Often these patients, because they
do get that serous otitis media,
we’ll place tympanostomy tubes
so that they can hear better and
so that there’s less discomfort.
These patients warrant genetic
counseling because this is,
especially in Kartagener’s, an
autosomal recessive condition.
A normal lifespan is absolutely
possible for these patients.
It’s a hard life with a lot of infections,
but they can be productive
members of society.