Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Screening for X-linked adrenoleukodystrophy among adult men with Addison's disease.
[x-linked adrenoleukodystrophy]
X-
linked
adrenoleukodystrophy
is
an
important
cause
of
Addison
's
disease
in
boys
,
but
less
is
known
about
its
contribution
to
Addison
's
disease
in
adult
men
.
After
surveying
all
known
cases
of
X-
linked
adrenoleukodystrophy
in
Norway
in
a
separate
study
,
we
aimed
to
look
for
any
missed
cases
among
the
population
of
adult
men
with
nonautoimmune
Addison
's
disease
.
Among
153
adult
men
identified
in
a
National
Registry
for
Addison
's
Disease
(
75
%
of
identified
male
cases
of
Addison
's
disease
in
Norway
)
,
those
with
negative
indices
for
21
-
hydroxylase
autoantibodies
were
selected
.
Additionally
,
cases
with
low
autoantibody
indices
(
48
-
200
)
were
selected
.
Sera
from
subjects
included
were
analysed
for
levels
of
very
long
-chain
fatty
acids
,
which
are
diagnostic
for
X-
linked
adrenoleukodystrophy
in
men
.
Eighteen
subjects
had
negative
indices
and
17
had
low
indices
for
21
-
hydroxylase
autoantibodies
.
None
of
those
with
low
indices
and
only
one
of
those
with
negative
indices
were
found
to
have
X-
linked
adrenoleukodystrophy
;
this
subject
had
already
been
diagnosed
because
of
the
neurological
symptoms
.
Cases
of
Addison
's
disease
proved
to
be
caused
by
X-
linked
adrenoleukodystrophy
constitute
1
·
5
%
of
all
adult
male
cases
in
Norway
;
the
proportion
among
nonautoimmune
cases
was
15
%
.
We
found
X-
linked
adrenoleukodystrophy
to
be
an
uncommon
cause
of
Addison
's
disease
in
adult
men
.
However
,
this
aetiological
diagnosis
has
far-reaching
consequences
both
for
the
patient
and
for
his
extended
family
.
We
therefore
recommend
that
all
adult
men
with
nonautoimmune
Addison
's
disease
be
analysed
for
levels
of
very
long
-chain
fatty
acids
.
Diseases
Validation
Diseases presenting
"the neurological symptoms"
symptom
x-linked adrenoleukodystrophy
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom
