PKD Life - Summer 2020 - 22

THE RESEARCH REPORT

Unraveling
a Medical
Mystery
Researcher Terry
Watnick, M.D., is
investigating the link
between PKD and
brain aneurysms
By Debra Gordon

population to have an aneurysm, a bulge
or balloon in the blood vessels in the
brain. If the vessel bursts, sudden death
or severe neurological damage may follow. Indeed, about 10% of people with
PKD have a brain aneurysm, and about
20% percent of families with a PKD history also have a history of the condition.
Despite this, "aneurysm in PKD is a
significantly under-researched area
that is not well understood," says Terry
Watnick, M.D., who directs the inherited
renal disease clinic at the University
of Maryland in Baltimore and is the
principal investigator for the National
Institutes of Health-funded Baltimore
Polycystic Kidney Disease Research and
Clinical Core Center.

22

PKD LIFE * SUMMER 2020

Dr. Watnick is sure, however, that some genetic component is at work. "Because
there is a familial predisposition to both PKD and aneurysms, we think that there is
a genetic factor increasing
the risk in some people,"
she says.
She and her team found
the same mutation on the
PKD1 gene in three families
with a history of PKD and
aneurysm who were not

related to one another.
"This could be just by chance
because it's a common
mutation," Dr. Watnick says.
"But the other possibility
is that there is something
biologically relevant about
this mutation."

SEARCHING
FOR CLUES

Now, thanks to a grant
from the PKD Foundation,
Dr. Watnick is taking the

ZEPHYR/SCIENCE SOURCE

with ADPKD are five to 10
P eople
times more likely than the general
PKD Life - Summer 2020

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