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[Cystinuria: diagnosis and therapeutic approach].
[cystinuria]
Cystinuria
is
an
aminoaciduria
due
to
the
impairment
of
transport
of
cystine
and
dibasic
amino
acids
(
arginine
,
ornithine
,
and
lysine
)
in
the
apical
membrane
of
the
intestinal
epithelium
and
proximal
renal
tubule
.
The
result
is
an
absence
of
cystine
reabsorption
in
the
renal
tubule
producing
an
excess
of
cystine
in
urine
and
stone
formation
.
Unlike
the
other
stones
,
cystine
stones
are
very
difficult
to
eliminate
with
lithotripsy
.
Noninvasive
therapy
should
therefore
be
used
to
prevent
relapse
in
stone
formation
.
This
therapy
is
based
on
the
use
of
high
fluid
intake
,
urine
alkalinization
,
and
chelating
agents
.
In
order
to
preserve
renal
function
,
a
combination
of
these
three
therapeutic
measures
is
necessary
to
produce
a
low
recurrence
and
morbidity
of
the
disease
.
Diseases
Validation
Diseases presenting
"urine alkalinization"
symptom
cystinuria
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