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[Cystinuria].
[cystinuria]
Cystinuria
is
an
autosomal
recessive
disorder
characterized
by
impairment
of
the
proximal
renal
tubules
which
are
unable
to
reabsorb
cystine
and
dibasic
amino
acids
,
leading
to
the
formation
of
recurrent
kidney
stones
.
According
to
the
most
recent
genetic
knowledge
,
there
are
two
types
of
cystinuria
.
The
disease
is
more
severe
in
men
than
in
women
in
terms
of
early
appearance
and
number
of
produced
stones
.
Renal
function
is
generally
maintained
even
after
long
-lasting
disease
.
Type
A
heterozygotes
are
generally
asymptomatic
while
type
B
heterozygotes
usually
have
a
three-fold
increased
incidence
of
kidney
stones
compared
to
the
general
population
.
Medical
treatment
of
cystinuria
with
cystine-binding
drugs
and
alkali
is
feasible
and
effective
but
requires
continuous
monitoring
of
free-cystine
urine
levels
and
urine
pH
and
careful
surveillance
of
side
effects
,
with
particular
attention
to
the
onset
of
proteinuria
.
Diseases
Validation
Diseases presenting
"number of produced stones"
symptom
cystinuria
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