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Oral findings associated with primary hyperoxaluria type I.
[primary hyperoxaluria type 1]
In
the
present
paper
we
report
the
oral
findings
of
a
patient
who
was
diagnosed
with
hyperoxaluria
.
Hyperoxalurias
can
basically
be
classified
as
primary
and
secondary
,
with
the
first
being
inborn
errors
of
metabolism
and
the
second
a
result
of
excessive
oxalate
intake
.
Primary
hyperoxalurias
form
a
rare
group
of
metabolic
diseases
that
are
inherited
in
the
autosomal
recessive
fashion
.
The
affected
genes
code
for
specific
hepatic
enzymes
that
are
involved
in
glyoxylate
metabolism
and
their
deficiency
results
in
overproduction
of
oxalate
.
Two
different
types
are
described
:
Primary
hyperoxaluria
type
I
results
from
a
deficiency
of
peroxisomal
enzyme
alanine-glyoxylate
aminotransferase
and
the
more
rare
type
II
from
a
deficiency
of
cytosolic
enzyme
D-
glycerate
dehydrogenase
.
Since
oxalate
is
primarily
excreted
through
the
kidneys
,
abnormally
high
concentration
of
oxalate
in
the
urine
occurs
.
This
can
in
turn
result
in
recurrent
kidney
stones
and
parenchymal
renal
damage
and
end-
stage
renal
disease
(
ESRD
)
.
Inability
to
further
excrete
oxalate
through
the
kidneys
leads
to
its
deposition
in
various
organs
(
oxalosis
)
.
Several
oral
findings
have
been
described
in
patients
with
oxalosis
,
most
important
of
whose
are
bone
resorption
in
the
jaws
,
external
root
resorption
and
rapidly
progressive
dental
mobility
,
as
well
as
dental
pain
associated
with
deposition
of
oxalate
in
the
dentine
and
the
pulp
.
Diseases
Validation
Diseases presenting
"pain"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
aniridia
aromatase deficiency
carcinoma of the gallbladder
cholangiocarcinoma
coats disease
congenital diaphragmatic hernia
congenital toxoplasmosis
cushing syndrome
cutaneous mastocytosis
cystinuria
dedifferentiated liposarcoma
dentin dysplasia
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
focal myositis
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
lamellar ichthyosis
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
neuralgic amyotrophy
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
phenylketonuria
pleomorphic liposarcoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
scrub typhus
sneddon syndrome
systemic capillary leak syndrome
thoracic outlet syndrome
trochlear dysplasia
typhoid
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
wolf-hirschhorn syndrome
This symptom has already been validated