So if we suspect cystic fibrosis,
how do we diagnose the disease?
Well, the first test we should go
to is actually quite inexpensive
and it’s the sweat test.
Typically, we take a child,
we put them under a hot lamp for an
hour, and we allow them to sweat.
And we have patches that are on
their skin and we weigh the patches
and then we measure the
salinity of the patch.
That will tell us whether
they have cystic fibrosis
by virtue of the fact that children
with chloride channel defects
will have abnormal salt
content in their sweat.
If we then suspect CF in this patient,
oftentimes we’ll do a DNA analysis
and find what are the mutations that
are present in this child’s CFTR gene.
So when do you want
to get a test?
You certainly want to get a test in a
child with recurrent cough or pneumonia,
a child with recurrent sinusitis, a child
with poor weight gain or failure to thrive,
a child with rectal
prolapse or nasal polyps,
any child where there’s a family
history of cystic fibrosis,
a child with a fat soluble vitamin
deficiency, a child with clubbing,
and certainly a child with Pseudomonas
or other atypical lung infections.
In all of these cases a
sweat test is indicated.
Remember, it’s a cheap
and accurate test.
Treatment of these patients is complex
and we’ll break it down for you.
First off, antibiotics are really indicated
for all respiratory exacerbations.
Chances are this patient has
an overgrowth of bacteria.
The goal here is suppression of the
growth of bacteria, it’s not a cure.
We can’t truly eliminate these bacteria,
especially the ones growing in biofilms.
Long-term, patients will get monthly
tobramycin inhalational therapy
or they may also
Keep in mind though the azithromycin is
mostly for its anti-inflammatory properties,
not for its antimicrobial
Other inhaled medications
include nebulized 7% saline.
This acts as an osmotic agent
and allows fluid to flow into the
airway which loosens up the mucus.
These patients will require
a pulmonary toilet,
which is all the therapies that go with this,
such as coughalators and vest treatments.
Patients will often get DNAses,
which they have to then inhale.
These are enzymes that cleave
long strands of neutrophil DNA
An example of a
name is Pulmozyme.
This thins out the mucus further to
allow these patients to cough it up.
They usually have
asthma along with this
so they are often treated with albuterol
and steroids, as we do with asthma.
And these patients, we need to
make sure they get immunized.
Influenza can really throw a patient
with cystic fibrosis for a loop.
The flu vaccine is
so is the streptococcal
like the multivalent streptococcal
infection that we give in infancy
or even the Pneumovax vaccine.
For severe disease, these patients may end
up on BiPAP, especially later on in life.
As a continuous therapy they may
have a ventilator machine at home.
They may end up getting
embolization or surgery
for any pulmonary
hemorrhages that happen.
And in very last case, we may
treat them with lung transplant.
If you are growing Burkholderia,
you probably are not allowed
to be given a lung transplant,
you’re excluded from the list.
Lungs transplant is
not taken lightly.
The five-year survival rate of a patient
with lung transplant is around 50%.
Other treatment is required for
other presentations of the illness.
For sinusitis, patients will get
antibiotics, nasal steroids, rarely surgery.
For pancreatic disease, we give
them extra fat soluble vitamins
and insulin if they have
the associated diabetes.
For biliary disease, we will give
these patients ursodeoxycholic acid,
which dissolves gallstones.
And if they have very severe liver disease,
they may require a liver transplant.
And for the distal intestinal
disease like DIOS,
we’ll reduce any rectal prolapse
that happens to come along,
and what’s key is making
sure we avoid constipation
with meds like propylene glycol.
The prognosis is dim for these
families and for these patients.
Nearly every patient with cystic
fibrosis will pass away prematurely.
But the age at which people are
surviving is later and later
and some people are living
well into their parenthood
and are able to have outstanding
and productive lives.
So this is a disease that we are
improving how patients are doing.
Some key aspects of better diagnosis
early is resulting in a better outcome.
So it’s key to remember
that we have to diagnose
these children early
in their childhood
and that will confer a longer
and more healthy life.
We have to counsel patients
at all stages of life
in terms of what their expectations are
and in terms of what their needs are.
It’s been shown that a center of
care for cystic fibrosis management
confers a better outcome
than an outlying area.
So patients should be
referred to a major CF center
where they can get a
That’s all I have for you
today about this illness.
Thanks for listening.