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Triple-A syndrome--the first Chinese patient with novel mutations in the AAAS gene.
[triple a syndrome]
We
report
on
the
first
Chinese
patient
with
triple-
A
syndrome
,
who
presented
at
22
months
with
status
epilepticus
secondary
to
hyponatraemia
and
hypoglycaemia
.
Subsequent
endocrine
investigations
confirmed
primary
adrenal
insufficiency
and
aldosterone
deficiency
.
In
the
presence
of
achalasia
and
alacrima
,
this
patient
satisfies
the
diagnostic
criteria
of
triple-
A
syndrome
.
Further
molecular
testing
detected
compound
heterozygous
mutations
in
the
AAAS
gene
:
a
c
.
580
C
-
-
>
T
transition
in
exon
7
and
a
c
.
771
delG
single
nucleotide
deletion
in
exon
8
.
Testing
of
parents
and
brother
confirmed
their
heterozygous
carrier
status
.
Diseases
Validation
Diseases presenting
"mutations in the aaas gene"
symptom
triple a syndrome
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