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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
"common cause"
symptom
achondroplasia
acute rheumatic fever
adrenomyeloneuropathy
allergic bronchopulmonary aspergillosis
alpha-thalassemia
aniridia
aromatase deficiency
benign recurrent intrahepatic cholestasis
cadasil
child syndrome
coats disease
congenital adrenal hyperplasia
congenital toxoplasmosis
cushing syndrome
erdheim-chester disease
esophageal adenocarcinoma
esophageal squamous cell carcinoma
fabry disease
familial hypocalciuric hypercalcemia
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
lamellar ichthyosis
legionellosis
liposarcoma
locked-in syndrome
malignant atrophic papulosis
neonatal adrenoleukodystrophy
neuralgic amyotrophy
pendred syndrome
primary hyperoxaluria type 1
pyruvate dehydrogenase deficiency
scrub typhus
systemic capillary leak syndrome
thoracic outlet syndrome
typhoid
von hippel-lindau disease
wiskott-aldrich syndrome
zellweger syndrome
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