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A random Abstract
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Hereditary causes of kidney stones and chronic kidney disease.
[cystinuria]
Adenine
phosphoribosyltransferase
(
APRT
)
deficiency
,
cystinuria
,
Dent
disease
,
familial
hypomagnesemia
with
hypercalciuria
and
nephrocalcinosis
(
FHHNC
)
,
and
primary
hyperoxaluria
(
PH
)
are
rare
but
important
causes
of
severe
kidney
stone
disease
and
/
or
chronic
kidney
disease
in
children
.
Recurrent
kidney
stone
disease
and
nephrocalcinosis
,
particularly
in
pre-pubertal
children
,
should
alert
the
physician
to
the
possibility
of
an
inborn
error
of
metabolism
as
the
underlying
cause
.
Unfortunately
,
the
lack
of
recognition
and
knowledge
of
the
five
disorders
has
frequently
resulted
in
an
unacceptable
delay
in
diagnosis
and
treatment
,
sometimes
with
grave
consequences
.
A
high
index
of
suspicion
coupled
with
early
diagnosis
may
reduce
or
even
prevent
the
serious
long
-term
complications
of
these
diseases
.
In
this
paper
,
we
review
the
epidemiology
,
clinical
features
,
diagnosis
,
treatment
,
and
outcome
of
patients
with
APRT
deficiency
,
cystinuria
,
Dent
disease
,
FHHNC
,
and
PH
,
with
an
emphasis
on
childhood
manifestations
.
Diseases
Validation
Diseases presenting
"lack of recognition"
symptom
cystinuria
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