Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"hyperoxaluria"
symptom
cystinuria
neonatal adrenoleukodystrophy
primary hyperoxaluria type 1
This symptom has already been validated