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Characterization of patients with heterozygous cystinuria.
[cystinuria]
To
characterize
a
contemporary
cohort
of
patients
with
heterozygous
(
TZ
)
cystinuria
and
compare
them
with
a
concurrent
cohort
of
patients
with
homozygous
(
MZ
)
cystinuria
.
A
retrospective
review
of
prospectively
collected
data
was
performed
for
42
consecutive
patients
presenting
with
a
positive
cyanide-nitroprusside
test
from
September
2009
to
September
2011
.
Clinical
data
were
collected
,
including
the
findings
from
a
detailed
metabolic
stone
workup
that
included
two
24
-
hour
urine
collections
with
quantitative
cystine
.
The
patients
were
divided
into
2
groups
:
those
with
TZ
(
30
-
400
mg
/
d
)
and
those
with
MZ
(
>
400
mg
/
d
)
cystinuria
.
One
patient
was
excluded
because
the
cystine
excretion
was
within
the
normal
range
(
<
30
mg
/
d
)
,
35
(
83
.
3
%
)
and
6
(
14
.
3
%
)
had
TZ
and
MZ
cystinuria
,
respectively
.
Compared
with
those
with
TZ
cystinuria
,
those
with
MZ
cystinuria
were
significantly
younger
at
the
first
stone
episode
(
median
48
years
,
range
14
-
67
,
vs
17
,
range
6
-
44
,
P
=
.
002
)
,
more
were
female
(
20
%
vs
66
.
7
%
;
P
=
.
03
)
,
and
more
patients
had
bilateral
stones
(
8
.
6
%
vs
50
%
;
P
=
.
03
)
.
Finally
,
the
patients
with
MZ
cystinuria
had
more
stone
episodes
than
those
with
TZ
cystinuria
(
3
vs
1
;
P
=
.
04
)
.
From
the
detailed
metabolic
stone
evaluation
,
the
incidence
of
hyperuricemia
was
significantly
greater
in
the
MZ
patients
(
17
.
1
%
vs
66
.
7
%
;
P
=
.
02
)
.
Although
all
the
MZ
patients
developed
pure
cystine
stones
,
18
(
51
.
4
%
)
,
7
(
20
.
0
%
)
,
and
3
(
8
.
6
%
)
of
the
TZ
patients
developed
calcium
oxalate
,
uric
acid
,
and
cystine
stones
,
respectively
(
P
<
.
001
)
.
In
the
TZ
group
,
11
patients
(
31
.
4
%
)
had
false-negative
results
on
subsequent
cyanide-nitroprusside
testing
.
Significant
differences
were
found
between
the
patients
with
TZ
and
MZ
cystinuria
in
terms
of
age
at
the
first
stone
episode
,
male
/
female
ratio
,
incidence
of
hyperuricemia
,
and
stone
composition
.
The
clinical
significance
remains
to
be
elucidated
.
Diseases
Validation
Diseases presenting
"bilateral stones"
symptom
cystinuria
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