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Primary hyperoxaluria in a compound heterozygote infant.
[primary hyperoxaluria type 1]
Primary
hyperoxaluria
type
1
is
a
rare
disorder
caused
by
a
defect
in
the
hepatic
metabolism
of
glyoxylate
.
Cases
presenting
in
infancy
are
very
uncommon
and
often
have
a
severe
course
leading
to
early
end-
stage
renal
failure
.
We
treated
a
case
of
early
presentation
of
primary
hyperoxaluria
type
1
and
reviewed
the
relevant
literature
.
A
4
-
month
-old
female
infant
was
admitted
to
our
hospital
because
of
acute
renal
failure
and
nephrocalcinosis
.
Mutational
analysis
of
alanine-glyoxylate
aminotransferase
gene
revealed
compound
heterozygosity
in
the
infant
,
confirming
the
development
of
primary
hyperoxaluria
type
1
.
A
few
weeks
later
,
the
condition
of
the
infant
worsened
during
an
interdialytic
period
and
died
.
Interest
of
this
case
is
based
on
the
coexistence
of
two
mutations
of
alanine-glyoxylate
aminotransferase
gene
recently
reported
,
and
it
confirms
the
severe
course
of
the
disease
when
it
presents
in
infancy
.
It
also
highlights
the
importance
of
the
association
of
nephrocalcinosis
and
urolithiasis
as
key
diagnostic
manifestations
of
primary
hyperoxaluria
type
1
.