Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Nephrotic syndrome occurring during tiopronin treatment for cystinuria.
[cystinuria]
Cystinuria
is
an
autosomal
recessive
disorder
characterized
with
abnormal
tubular
reabsorption
of
cystine
and
dibasic
amino
acids
leading
to
cystine
urolithiasis
.
The
classical
form
is
caused
by
mutations
in
the
SLC
3
A
1
gene
(
OMIM
2
2010
0
)
.
The
cornerstone
of
the
treatment
is
high
hydration
and
alkalization
of
the
urine
to
achieve
urine
pH
between
7
.
0
and
7
.
5
,
at
which
point
,
cystine
solubility
in
the
urine
is
optimal
.
These
measures
very
often
fail
,
and
thus
addition
of
sulfhydryl
agents
like
penicillamine
and
tiopronin
(
mercaptopropionyl
glycine
)
is
recommended
.
Herein
,
we
report
a
3
-
year
-old
boy
with
cystinuria
resulting
in
recurrent
nephrolithiasis
requiring
surgery
and
extracorporeal
shock
wave
lithotripsy
.
Nine
months
after
introduction
of
tiopronin
,
the
boy
manifested
generalized
edema
,
oliguria
,
and
biochemical
indices
of
nephrotic
syndrome
.
Tiopronin
was
withdrawn
,
and
the
boy
was
given
only
supportive
treatment
.
Within
10
days
,
he
entered
into
clinical
and
biochemical
remission
.
Pediatricians
should
be
aware
of
this
adverse
effect
of
tiopronin
,
and
therefore
,
testing
of
the
urine
with
strips
or
sulfosalicylic
acid
at
least
once
weekly
at
home
may
be
very
helpful
for
early
detection
of
proteinuria
.
Diseases
Validation
Diseases presenting
"generalized edema"
symptom
cystinuria
monosomy 21
scrub typhus
systemic capillary leak syndrome
This symptom has already been validated