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Primary hyperoxaluria type 1 in Tunisian children.
[primary hyperoxaluria type 1]
Primary
hyperoxaliuria
type
1
is
an
autosomal
recessive
disorder
characterized
by
increasing
urinary
excretion
of
calcium
oxalate
,
recurrent
urolithiasis
,
nephrocalcinosis
,
and
accumulation
of
insoluble
oxalate
throughout
the
body
.
This
inborn
error
of
metabolism
appears
to
be
a
common
cause
of
end
stage
renal
disease
in
Tunisia
.
To
review
the
clinical
,
biological
and
radiological
futures
of
primary
hyperoxaluria
type
1
and
to
correlate
these
aspects
with
the
development
of
end-
stage
renal
disease
.
we
retrospectively
reviewed
44
children
with
Primary
hyperoxaliuria
type
I
who
were
treated
in
our
department
during
a
period
of
15
years
between
1995
and
2009
.
The
diagnosis
was
established
by
quantitative
urinary
oxalate
excretion
.
In
patient
with
renal
impairment
,
the
diagnosis
was
made
by
infrared
spectroscopy
of
stone
or
by
renal
biopsy
.
Male
to
female
ratio
was
1
.
2
.
The
median
age
at
diagnosis
was
5
.
75
years
.
About
43
%
of
those
were
diagnosed
before
the
age
of
5
years
.
Initial
symptoms
were
dominated
by
uraemia
.
Four
patients
were
asymptomatic
and
diagnosed
by
sibling
screening
of
known
patients
.
Nephrocalcinosis
was
present
in
all
patients
.
It
is
cortical
in
34
%
,
medullary
in
32
%
and
global
in
34
%
.
At
diagnosis
,
twelve
children
were
in
end-
stage
renal
disease
(
27
%
)
.
Pyridoxine
response
,
which
is
defined
by
a
reduction
in
urine
oxalate
excretion
of
60
%
or
more
,
was
found
in
27
%
.
In
the
majority
of
patients
,
the
clinical
expression
of
Primary
hyperoxaliuria
type
1
is
characterized
by
nephrocalcinosis
,
urolithiasis
and
renal
failure
.
Pyridoxine
sensitivity
is
associated
with
better
outcome
.
Diseases
Validation
Diseases presenting
"quantitative urinary oxalate excretion"
symptom
primary hyperoxaluria type 1
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