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A rare case of primary hyperoxaluria type 1 co-existing with autosomal-dominant polycystic kidney disease in a newborn.
[primary hyperoxaluria type 1]
We
describe
the
first
reported
case
to
our
knowledge
of
an
infant
presenting
with
the
extremely
rare
association
of
primary
hyperoxaluria
type
1
(
PH-
1
)
and
autosomal-dominant
polycystic
kidney
disease
(
ADPKD
)
.
This
diagnosis
was
suspected
on
the
basis
of
the
renal
US
findings
and
confirmed
by
complementary
examinations
.
It
led
to
severe
oxalosis
with
very
rapid
onset
of
end-
stage
renal
failure
(
ESRF
)
and
required
combined
liver
-kidney
transplantation
at
the
age
of
18
months
.
The
boy
died
13
days
after
transplantation
.
