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Cinacalcet monotherapy in neonatal severe hyperparathyroidism: a case study and review.
[familial hypocalciuric hypercalcemia]
Neonatal
severe
hyperparathyroidism
(
NSHPT
)
is
a
severe
form
of
familial
hypocalciuric
hypercalcemia
characterized
by
severe
hypercalcemia
and
skeletal
demineralization
.
In
most
cases
,
NSHPT
is
due
to
biallelic
loss
-of-function
mutations
in
the
CASR
gene
encoding
the
calcium-sensing
receptor
(
CaSR
)
,
but
some
patients
have
heterozygous
mutations
.
Conventional
treatment
consists
of
iv
saline
,
bisphosphonates
,
and
parathyroidectomy
.
The
aim
of
this
project
was
to
characterize
the
molecular
basis
for
NSHPT
in
an
affected
newborn
and
to
describe
the
response
to
monotherapy
with
cinacalcet
.
Clinical
and
biochemical
features
were
monitored
as
cinacalcet
therapy
was
initiated
and
maintained
.
Genomic
DNA
was
obtained
from
the
proband
and
parents
.
The
CASR
gene
was
amplified
by
PCR
and
sequenced
directly
.
The
patient
was
a
full-term
male
who
developed
hypotonia
and
respiratory
failure
soon
after
birth
.
He
was
found
to
have
multiple
fractures
and
diffuse
bone
demineralization
,
with
a
marked
elevation
in
serum
ionized
calcium
(
1
.
99
mmol
/
L
)
and
elevated
serum
levels
of
intact
PTH
(
1154
pg
/
mL
)
;
serum
25
-
hydroxyvitamin
D
was
low
,
and
fractional
excretion
of
calcium
was
reduced
.
The
serum
calcium
level
was
not
reduced
by
iv
saline
infusion
.
Based
on
an
extensive
family
history
of
autosomal
dominant
hypercalcemia
,
a
diagnosis
of
NSHPT
was
made
,
and
cinacalcet
therapy
was
initiated
with
a
robust
and
durable
effect
.
Molecular
studies
revealed
a
heterozygous
R
185
Q
missense
mutation
in
the
CASR
in
the
patient
and
his
father
,
whereas
normal
sequences
for
the
CASR
gene
were
present
in
the
patient
's
mother
.
We
describe
the
first
use
of
cinacalcet
as
monotherapy
for
severe
hypercalcemia
in
a
newborn
with
NSHPT
.
The
rapid
and
durable
response
to
cinacalcet
suggests
that
a
trial
of
calcimimetic
therapy
should
be
considered
early
in
the
course
of
NSHPT
.
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