Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
[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
.
Diseases
Validation
Diseases presenting
"early diagnosis"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
alexander disease
allergic bronchopulmonary aspergillosis
aromatase deficiency
carcinoma of the gallbladder
cholangiocarcinoma
classical phenylketonuria
coats disease
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
cystinuria
dentin dysplasia
dentinogenesis imperfecta
dracunculiasis
erdheim-chester disease
erythropoietic protoporphyria
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
hirschsprung disease
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
kabuki syndrome
kallmann syndrome
kindler syndrome
krabbe disease
locked-in syndrome
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
oral submucous fibrosis
papillon-lefèvre syndrome
phenylketonuria
primary effusion lymphoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
thoracic outlet syndrome
triple a syndrome
typhoid
von hippel-lindau disease
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom