PKD Life - Summer 2020 - 23

what factors we're looking
for, we can be more precise
in screening patients."

WHO SHOULD
BE SCREENED?

research into the lab. She and
her team are developing a
mouse model containing the
aneurysm-associated human
PKD1 mutation they identified in those three families.
This will allow them to study
the effects of the mutation on
blood vessels.
Dr. Watnick's team is also
researching genetic modifiers that may contribute to
aneurysms. "We're trying to
collect blood samples from

as many people as we can
with PKD and aneurysm so
we can look more broadly at
their genome," she says. The
PKD Foundation put the word
out to its members about the
project, "and the response
has been overwhelming,"
she says.
"The importance of all this
is that we'd like to have better ways to identify people at
greater risk of aneurysms,"
she says. "If we understand

"We're trying
to collect blood
samples from
as many people
as we can
wit h PKD and
aneurysm so we
can look more
broadly at
their genome."

There are two schools of
thought on screening for
aneurysm, which is done
using magnetic resonance
angiography. One is to screen
patients with PKD and a
family history of aneurysm.
"That's why it's so important
to take a very careful medical
history," Dr. Watnick says.
The other is to screen everyone with PKD, "because not
everyone knows their family history."
Unless a patient wants to
be screened, Dr. Watnick opts
for the more conservative
approach. She also recommends screening people in
high-risk professions, such
as airline pilots, for whom an
aneurysm could be devastating to others as well.
"I also consider it if someone doesn't know their
family history or if they are
adopted," she says. That's
becoming more common as
more people have children
via assisted reproductive
techniques such as sperm or
egg donors.
Dr. Watnick and others
don't recommend universal
screening because sometimes
the test can be inconclusive.
"They may not be sure if
there's an aneurysm, and
then we have to do an angiogram with contrast dye that
could be dangerous to the
kidneys," she says.
Regardless, she says, "I
definitely lay out the risk for
aneurysm and give patients
the option."

*

P K D C U R E .O R G

23
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PKD Life - Summer 2020

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