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[Clinical features and genotype-phenotype studies of 89 Chinese patients with X-linked adrenoleukodystrophy].
[adrenomyeloneuropathy]
X-
linked
adrenoleukodystrophy
(
X-
ALD
)
is
the
most
common
inherited
disorder
of
peroxisomal
metabolism
which
is
characterized
by
demyelination
of
central
nervous
system
,
impaired
adrenal
cortex
and
abnormal
accumulation
of
very
long
chain
fatty
acids
in
body
fluid
and
tissues
.
In
this
study
,
the
clinical
features
and
the
genotype-phenotype
relationship
were
investigated
so
as
to
help
early
diagnosis
.
Clinical
data
of
89
Chinese
patients
with
X-
ALD
were
analyzed
and
mutation
spectrums
in
53
of
the
patients
were
investigated
by
polymerase
chain
reaction
and
DNA
sequencing
.
Of
the
89
cases
,
60
(
67
.
4
%
)
had
childhood
cerebral
ALD
(
CCALD
,
mean
age
of
onset
was
6
.
5
years
,
range
2
-
10
years
)
,
18
(
20
.
2
%
)
had
adolescent
cerebral
ALD
(
ACALD
,
mean
age
of
onset
12
.
1
years
,
range
11
-
19
years
)
,
7
(
7
.
9
%
)
had
adrenomyeloneuropathy
(
AMN
,
mean
age
of
onset
23
years
,
range
6
-
39
.
5
years
)
,
and
two
cases
were
asymptomatic
and
another
2
had
simple
Addison
's
disease
only
.
CCALD
was
the
most
common
and
severe
phenotype
,
visual
impairment
was
the
most
common
initial
symptom
in
CCALD
and
ACALD
patients
.
Twenty
four
cases
(
63
%
)
in
whom
hydrocortisone
and
ACTH
were
measured
showed
adrenal
insufficiency
.
Forty
five
different
mutations
were
identified
in
53
patients
.
Missense
mutations
were
the
most
common
.
No
hotspot
mutation
was
found
in
these
patients
and
1415
delAG
,
the
most
frequent
mutation
found
worldwide
seemed
not
to
be
the
real
"
hotspot
"
in
these
Chinese
patients
.
The
same
phenotype
may
be
due
to
diverse
genomic
mutations
.
A
single
mutation
may
result
in
different
phenotypes
even
within
a
family
.
The
phenotype
distribution
,
initial
symptom
and
gene
mutation
spectrum
of
Chinese
patients
may
not
be
completely
consistent
with
those
in
other
countries
.
The
clinical
phenotype
of
the
disease
had
no
definite
relationship
with
the
nature
of
gene
mutations
.
Diseases
Validation
Diseases presenting
"single mutation"
symptom
adrenomyeloneuropathy
cystinuria
hereditary cerebral hemorrhage with amyloidosis
oculocutaneous albinism
werner syndrome
x-linked adrenoleukodystrophy
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