Rare Diseases Symptoms Automatic Extraction
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[A pedigree study of a patient with primary pigmented nodular adrenocortical disease and familial gene mutation].
[cushing syndrome]
To
clarify
the
clinical
features
and
genetic
background
of
a
kindred
of
primary
pigmented
nodular
adrenocortical
disease
(
PPNAD
)
.
Detailed
clinical
characteristics
and
laboratory
test
results
from
a
ten
-
year
old
girl
diagnosed
as
PPNAD
were
collected
.
Seven
members
of
her
family
were
screened
for
Cushing
syndrome
and
Carney
complex
,
and
their
blood
DNA
was
extracted
and
sequenced
for
PRKAR
1
A
,
PDE
11
A
,
PDE
8
B
and
CTNNB
1
mutations
with
ABI
3
730
.
T
he
girl
presented
with
symptoms
and
signs
of
hypercortisolism
,
while
no
features
of
Carney
complex
were
observed
.
Hypercortisolemia
,
suppressed
corticotrophin
and
high
urinary
free
cortisol
level
were
revealed
.
Cortisol
level
could
not
be
suppressed
both
in
high
and
low
dose
dexamethasone
suppression
test
.
The
diagnosis
of
adrenocorticotrophic
hormone
(
ACTH
)
-
independent
Cushing
syndrome
was
established
.
Image
and
pathology
of
adrenal
glands
were
in
accordance
with
PPNAD
.
Other
family
members
showed
no
evidence
of
Cushing
syndrome
or
Carney
complex
.
DNA
sequencing
showed
that
the
patient
harbored
a
missense
mutation
,
C
18
G
.
Her
father
and
younger
sister
were
proved
to
be
carriers
of
this
mutation
.
A
Chinese
PPNAD
family
was
identified
clinically
and
genetically
,
and
a
novel
missense
mutation
of
PRKAR
1
A
was
found
.