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Nephrolithiasis related to inborn metabolic diseases.
[primary hyperoxaluria type 1]
Nephrolithiasis
associated
with
inborn
metabolic
diseases
is
a
very
rare
condition
with
some
common
characteristics
:
early
onset
of
symptoms
,
family
history
,
associated
tubular
impairment
,
bilateral
,
multiple
and
recurrent
stones
,
and
association
with
nephrocalcinosis
.
The
prognosis
of
such
diseases
may
lead
to
life
threatening
conditions
,
not
only
because
of
unabated
kidney
damage
but
also
because
of
progressive
extra
-
renal
involvement
,
either
in
a
systemic
form
(
e
.
g
.
primary
hyperoxaluria
type
1
,
requiring
combined
liver
and
kidney
transplantation
)
,
or
in
a
neurological
form
(
Lesch-
Nyhan
syndrome
leading
to
auto-mutilation
and
disability
,
phosphoribosyl
pyrophosphate
synthetase
superactivity
,
which
is
associated
with
mental
retardation
)
.
Patients
with
other
inborn
metabolic
diseases
present
only
with
recurrent
stone
formation
,
such
as
cystinuria
,
adenine
phosphoribosyl-transferase
deficiency
,
xanthine
deficiency
.
Finally
,
nephrolithiasis
may
be
secondarily
part
of
some
other
metabolic
diseases
,
such
as
glycogen
storage
disease
type
1
or
inborn
errors
of
metabolism
leading
to
Fanconi
syndrome
(
nephropathic
cystinosis
,
tyrosinaemia
type
1
,
fructose
intolerance
,
Wilson
disease
,
respiratory
chain
disorders
,
etc
.
)
.
The
diagnosis
is
based
on
highly
specific
investigations
,
including
crystal
identification
,
biochemical
analyses
and
DNA
study
.
The
treatment
of
nephrolithiasis
requires
hydration
as
well
as
specific
measures
.
Compliance
is
a
major
issue
regarding
the
progression
of
renal
damage
,
but
the
overall
outcome
mainly
depends
on
extra
-
renal
involvement
in
relation
to
the
metabolic
defect
.
Diseases
Validation
Diseases presenting
"mental retardation"
symptom
achondroplasia
alexander disease
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
cystinuria
dentin dysplasia
familial hypocalciuric hypercalcemia
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
lamellar ichthyosis
lymphangioleiomyomatosis
monosomy 21
phenylketonuria
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
triple a syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated