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Triple A syndrome: 32 years experience of a single centre (1977-2008).
[triple a syndrome]
Triple
A
syndrome
is
an
autosomal
recessive
disorder
characterized
by
alacrima
,
achalasia
,
ACTH-resistant
adrenal
insufficiency
,
autonomic
dysfunction
,
and
neurodegeneration
.
Mutations
in
the
AAAS
gene
on
chromosome
12
q
13
encoding
the
nuclear
pore
protein
ALADIN
have
been
reported
in
these
patients
.
Over
the
period
1977
-
2008
we
evaluated
ten
subjects
with
the
clinical
diagnosis
of
triple
A
syndrome
.
Molecular
analysis
was
performed
in
seven
patients
and
revealed
that
all
except
one
are
compound
heterozygotes
for
two
mutations
in
the
AAAS
gene
.
Two
novel
mutations
were
detected
:
c
.
123
+
2
T
>
C
resulted
in
splice
defect
while
c
.
1261
_
1262
insG
mutation
resulted
in
a
truncated
protein
(
p
.
V
421
fs
)
,
which
most
probably
is
not
functional
.
Genotype-phenotype
correlation
could
not
be
established
.
In
all
our
patients
,
except
one
sibling
of
previously
diagnosed
brother
and
sister
,
genetic
analysis
was
performed
when
at
least
two
symptoms
were
present
,
usually
alacrima
and
achalasia
.
Based
on
our
experience
,
we
recommend
that
in
case
of
the
presence
of
alacrima
and
at
least
one
more
symptom
of
triple
A
syndrome
,
adrenal
function
testing
and
molecular
analysis
should
be
performed
.
In
all
children
with
mutation
in
AAAS
gene
,
regular
follow
up
of
adrenal
function
is
necessary
to
avoid
adrenal
crisis
and
start
substitution
therapy
as
soon
as
adrenal
insufficiency
is
noted
.
Diseases
Validation
Diseases presenting
"previously diagnosed brother"
symptom
triple a syndrome
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