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[Biochemical and molecular diagnosis of primary hyperoxaluria type 1: Tunisian study about 15 cases].
[primary hyperoxaluria type 1]
The
primary
type
1
hyperoxaluria
(
HP
1
)
is
the
most
frequent
and
severe
form
of
the
primary
hyperoxaluriae
.
It
is
related
to
an
enzymatic
deficit
in
alanine
glyoxylate
aminotransferase
(
AGT
)
.
It
is
a
recessive
autosomic
disease
.
Rare
in
Europe
,
it
is
responsible
for
13
%
of
the
end
stage
renal
failure
in
the
Tunisian
child
.
The
aim
of
this
work
is
to
evaluate
the
biological
and
molecular
examinations
contributing
with
the
early
diagnosis
and
the
follow-up
of
the
HP
1
patients
and
to
test
their
response
to
pyridoxin
.
A
prospective
study
of
15
children
who
have
oxaluria
lower
than
500
μmol
/
l
and
normal
renal
function
is
carried
out
.
The
cristalluria
study
,
oxaluria
and
the
glycolate-glycerate
urinary
ratio
were
carried
out
on
all
the
patients
.
The
so
-called
mutation
maghrebean
T
853
(
Ile
244
Thr
)
was
detected
by
direct
sequencing
of
the
exon
7
gene
AGXT
.
The
response
to
pyridoxin
was
tested
among
13
patients
.
The
oxaluria
concentration
was
greater
or
equal
to
1000
μmol
/
l
in
nine
cases
(
60
%
)
and
ranging
between
600
and
1000
μmol
/
l
in
the
remaining
cases
.
The
oxaluria
flow
was
significantly
high
depending
on
the
age
.
The
glycolaturia
was
high
among
eight
patients
(
57
%
)
.
In
61
,
5
%
of
the
cases
,
the
most
frequent
crystalline
species
was
whewellite
(
C
1
)
.
The
"
maghrebin
"
mutation
was
identified
in
nine
patients
at
the
heterozygous
state
,
showing
25
%
allelic
frequency
.
The
response
to
pyridoxin
was
observed
in
the
13
tested
cases
.
The
HP
1
is
frequent
in
our
country
from
where
the
need
for
an
early
diagnosis
.
The
use
of
simple
biochemical
tools
such
as
the
study
of
the
cristalluria
,
the
morphological
analysis
of
stones
and
the
oxaluria
allow
to
direct
the
diagnosis
towards
a
HP
1
,
confirmed
by
the
glycolaturia
determination
.
The
molecular
biology
is
required
in
the
atypical
forms
.