So how do children present
with cystic fibrosis?
Most of them are asymptomatic but are
picked up on the newborn screen,
which is ubiquitous
in the United States.
The newborn screen looks
for the genetic defect
that’s present in about
90% of these patients.
So we will know that they have
cystic fibrosis very early.
That’s important because your prognosis
is much better with early detection.
Twenty percent of infants will present
with meconium ileus in infancy,
and so we will pick up
even more of the infants
who were missed somehow
on the newborn screen
as a result of a meconium
ileus early on in life.
Recurrent or persistent
may be a presentation for a
minority of these patients.
If you see a patient who presents
with recurrent pneumonia,
you should be concerned
about cystic fibrosis.
Patients under a year of age are more
likely to present with GI symptoms
than they are with
they may present with a pancreatitis, or
steatorrhea, or even generalized edema,
which is from a poor
inside the GI tract as a result
of pancreatic insufficiency.
These patients will have a lower albumin
and the oncotic pressures
result in a generalized edema.
Commonly, these patients might
present with failure to thrive
and that may be
the biggest clue.
Remember, nutritive care is incredibly
important to these patients
and in children who
have untreated CF,
they have a hard time
absorbing those nutrients
often because of their
If there is significant delay in diagnosis,
one might discover the sequelae
of chronic lung disease.
Patients may have crackles on exam,
decrease air entry, tachypnea,
use of accessory muscles,
a barrel-shaped chest,
and hypoxia on exam.
Again, in infants under one,
we should check for edema.
They may have nasal polyps.
Frequently, sinusitis is present
in patients with cystic fibrosis.
Again, we remember that rectal prolapse.
And certainly if the respiratory symptoms
have been going on for a very long time,
we might be concerned
and you may see that on your physical
exam as is pictured on this slide.