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Identification of AP2S1 mutation and effects of low calcium formula in an infant with hypercalcemia and hypercalciuria.
[familial hypocalciuric hypercalcemia]
Although
AP
2
S
1
has
recently
been
shown
to
be
a
causative
gene
for
familial
hypocalciuric
hypercalcemia
type
3
(
FHH
3
)
,
knowledge
about
FHH
3
remains
poor
.
Our
objective
was
to
report
AP
2
S
1
mutation
and
effects
of
low
calcium
formula
in
a
patient
with
hypercalcemia
and
hypercalciuria
.
This
Japanese
female
infant
was
found
to
have
hypercalcemia
by
a
routine
laboratory
test
for
poor
weight
gain
on
breast
feeding
.
At
49
days
of
age
,
serum
calcium
(
adjusted
by
Payne
's
formula
)
was
13
.
1
mg
/
dL
,
intact
PTH
27
pg
/
mL
,
and
urinary
calcium
-
to
-creatinine
ratio
1
.
29
mg
/
mg
.
There
was
no
evidence
for
hyperparathyroidism
,
PTHrP-producing
neoplasm
,
and
vitamin
D
excess
.
These
data
,
except
for
hypercalciuria
,
appeared
to
be
consistent
with
defective
calcium-sensing
receptor
-mediated
signaling
.
With
use
of
low
calcium
formula
containing
2
.
6
mg
/
dL
of
calcium
,
she
showed
catch-up
growth
,
and
serum
calcium
was
decreased
,
as
was
urinary
calcium
-
to
-creatinine
ratio
.
Furthermore
,
feeding
with
a
mixture
of
low
calcium
formula
and
standard
formula
with
a
2
:
1
ratio
maintained
serum
calcium
∼
12
mg
/
dL
without
markedly
increasing
serum
PTH
.
Although
no
pathologic
mutation
was
detected
in
CASR
or
GNA
11
,
a
presumably
de
novo
heterozygous
mutation
(
p
.
Arg
15
Leu
)
,
a
previously
reported
causative
mutation
for
FHH
3
,
was
identified
in
AP
2
S
1
of
this
patient
.
The
results
imply
that
lack
of
hypocalciuria
does
not
necessarily
argue
against
the
presence
of
AP
2
S
1
mutations
.
The
early
infantile
age
of
this
patient
would
have
played
a
certain
role
in
the
occurrence
of
hypercalciuria
,
and
low
calcium
formula
is
worth
attempting
in
infants
with
FHH
.
Diseases
Validation
Diseases presenting
"poor weight gain on breast"
symptom
familial hypocalciuric hypercalcemia
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