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[Clinical analyses of bilateral renal angiomyolipomas associated with tuberous sclerosis complex].
[lymphangioleiomyomatosis]
To
explore
the
clinical
characteristics
,
diagnosis
,
treatment
and
outcomes
of
renal
angiomyolipoma
(
RAML
)
associated
with
tuberous
sclerosis
complex
(
TSC
)
.
The
clinical
data
were
analyzed
for
10
cases
of
renal
angiomyolipomas
associated
with
tuberous
sclerosis
.
There
were
4
males
and
6
females
with
a
mean
age
of
23
.
5
(
9
-
44
)
years
.
Five
patients
were
admitted
for
flank
pain
or
hematuria
.
RAML
was
found
by
TSC
associated
imaging
examinations
for
those
with
extra
renal
organ
involvement
.
Bilateral
multiple
renal
angiomyolipomas
were
all
confirmed
on
imaging
tests
and
consistent
with
clinical
TSC
.
The
maximal
diameter
of
RAMLs
was
from
2
to
15
(
7
.
3
±
3
.
5
)
cm
.
Six
patients
of
tumor
hemorrhage
had
an
average
maximal
diameter
of
9
.
2
cm
.
Selective
arterial
embolization
(
SAE
)
(
n
=
4
)
and
homeostasis
,
antiinflamation
and
immobilization
therapy
(
n
=
2
)
were
performed
.
Four
asymptomatic
cases
accepted
close
observation
.
During
a
follow-up
period
of
9
-
116
months
,
one
of
4
SAE
cases
underwent
secondary
SAE
due
to
rebleeding
12
months
later
while
there
was
no
recurrence
of
flank
pain
in
other
3
cases
.
The
mean
enlargement
of
maximal
diameter
was
1
.
5
cm
/
year
and
serum
creatinine
elevated
by
3
.
1
µmol
/
L
/
year
.
Six
cases
on
conservative
medical
therapy
or
under
observation
had
a
mean
enlargement
of
maximal
diameter
of
0
.
7
cm
/
year
and
serum
creatinine
elevated
by
2
.
2
µmol
/
L
/
year
.
Three
cases
remained
asymptomatic
,
one
died
of
respiratory
failure
from
TSC-associated
pulmonary
lymphangioleiomyomatosis
,
two
had
flank
pain
at
16
and
40
months
respectively
,
one
underwent
secondary
SAE
and
another
received
rapamysin
with
marked
tumor
regression
.
Bilateral
multiple
RAMLs
occur
in
most
TSC
patients
.
After
excluding
malignancy
,
SAE
becomes
an
important
choice
for
its
mini-invasiveness
,
efficacy
and
chances
of
re
-embolization
.
And
rapamysin
provides
ameliorative
treatment
for
TSC
patients
.
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