Rare Diseases Symptoms Automatic Extraction
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Health-related quality of life (HRQoL) in cystine compared with non-cystine stone formers.
[cystinuria]
Cystinuria
is
a
genetic
cause
of
recurrent
kidney
stones
which
may
be
more
recurrent
and
larger
than
more
common
non-cystine
stones
.
They
may
have
a
greater
impact
on
health-related
quality
of
life
(
HRQoL
)
.
We
measured
this
impact
by
surveying
HRQoL
in
patients
with
stones
,
comparing
non-cystine
stone
formers
(
NCSF
)
to
cystine
stone
formers
(
CYSF
)
and
both
groups
to
normative
values
of
the
US
population
.
We
used
SF-
36
v
2
via
an
internet
instrument
.
CYSF
patients
were
recruited
via
cystinuria
-related
websites
,
two
patient
advocacy
groups
,
and
an
active
endourology
practice
.
NCSF
patients
were
recruited
from
the
same
practice
and
by
email
.
Total
n
surveyed
with
scorable
data
:
214
CYSF
and
81
NCSF
.
The
participants
included
128
men
and
161
women
.
The
group
of
CYSF
were
significantly
younger
(
39
vs
.
54
years
)
and
suffered
longer
from
kidney
stones
(
255
vs
.
136
months
)
.
CYSF
patients
had
significantly
more
episodes
of
stones
than
NCSF
patients
in
the
last
year
(
N
=
108
CYSF
,
N
=
20
NCSF
)
.
More
frequent
stones
in
the
last
year
and
mental
comorbidities
most
often
predicted
worse
scores
in
the
individual
HRQoL
domains
.
However
,
cystine
stone
composition
was
a
significant
predictor
of
worse
scores
only
for
role
emotional
.
Better
scores
in
all
SF-
36
domains
were
associated
with
greater
time
since
the
last
kidney
stone
event
.
Although
kidney
stones
are
often
transient
,
kidney
stone
formers
,
regardless
of
stone
composition
,
have
a
worse
HRQoL
than
the
standard
US
population
,
which
has
a
normative
score
of
50
,
such
as
general
health
(
41
.
2
±
12
.
8
)
,
bodily
pain
(
46
.
5
±
11
.
8
)
and
mental
health
(
45
.
1
±
12
.
6
)
.
CYSF
are
more
frequent
and
severe
stone
formers
compared
with
NCSF
with
a
resulting
greater
,
direct
impact
on
the
HRQoL
of
CYSF
patients
.
Whether
preventive
strategies
for
cystinuria
are
being
properly
utilized
by
practitioners
,
and
which
strategies
are
most
effective
,
should
be
established
.
Diseases
Validation
Diseases presenting
"pain"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
aniridia
aromatase deficiency
carcinoma of the gallbladder
cholangiocarcinoma
coats disease
congenital diaphragmatic hernia
congenital toxoplasmosis
cushing syndrome
cutaneous mastocytosis
cystinuria
dedifferentiated liposarcoma
dentin dysplasia
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
focal myositis
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
lamellar ichthyosis
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
neuralgic amyotrophy
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
phenylketonuria
pleomorphic liposarcoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
scrub typhus
sneddon syndrome
systemic capillary leak syndrome
thoracic outlet syndrome
trochlear dysplasia
typhoid
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
wolf-hirschhorn syndrome
This symptom has already been validated