Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Long-term clinical follow-up and molecular genetic findings in eight patients with triple A syndrome.
[triple a syndrome]
The
triple
A
syndrome
(
Allgrove
syndrome
,
OMIM
#
231550
)
is
caused
by
autosomal
recessively
inherited
mutations
in
the
AAAS
gene
on
chromosome
12
q
13
encoding
the
nuclear
pore
protein
ALADIN
.
This
multisystemic
disease
is
characterised
by
achalasia
,
alacrima
,
adrenal
insufficiency
and
neurological
impairment
.
We
analyse
long
-term
clinical
follow-up
and
results
of
sequencing
of
the
AAAS
gene
in
eight
patients
with
triple
A
syndrome
aged
from
2
to
35
years
.
At
the
time
of
diagnosis
,
all
patients
presented
with
alacrima
,
neurological
dysfunction
,
dermatological
abnormalities
,
seven
of
them
with
adrenal
insufficiency
and
five
of
them
with
achalasia
.
Sequencing
of
the
AAAS
gene
identified
the
p
.
S
263
P
mutation
in
five
of
eight
patients
,
supporting
the
hypothesis
that
this
mutation
is
a
founder
mutation
in
Slavic
population
.
One
of
the
patients
is
homozygous
for
the
p
.
S
263
P
mutation
,
two
are
compound
heterozygous
for
the
p
.
S
263
P
and
the
p
.
G
14
fs
mutation
,
two
are
compound
heterozygous
for
the
p
.
S
263
Pro
mutation
and
p
.
S
296
Y
mutation
,
two
are
compound
heterozygous
for
the
p
.
G
14
fs
and
the
p
.
Q
387
X
mutations
and
one
is
homozygous
for
the
p
.
Q
387
X
mutation
.
In
the
course
of
the
follow-up
time
of
4
-
29
years
,
progression
of
existing
and
appearance
of
new
symptoms
developed
.
Although
severe
,
many
of
these
symptoms
presented
in
all
six
young
adult
patients
are
often
overlooked
or
neglected
:
postural
hypotension
with
blurred
vision
and
syncope
,
hyposalivation
resulting
with
complete
edentulosis
,
talocrular
contractures
with
permanent
walking
difficulties
and
erectile
dysfunction
in
male
patients
.
Triple
A
syndrome
is
a
progressive
debilitating
disorder
which
may
seriously
affect
quality
of
life
and
even
be
life-threatening
in
patients
with
severe
neurological
impairment
.
Long
-term
follow-up
of
patients
with
triple
A
syndrome
revealed
a
variety
of
the
clinical
features
involving
many
systems
.
Progressive
natural
course
of
the
disease
may
seriously
affect
quality
of
life
and
even
be
life-threatening
in
patients
with
severe
neurological
impairment
.
Diseases
Validation
Diseases presenting
"progressive natural course of the disease"
symptom
triple a syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom