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Differentiating familial hypocalciuric hypercalcemia from primary hyperparathyroidism.
[familial hypocalciuric hypercalcemia]
Because
the
clinical
features
of
familial
hypocalciuric
hypercalcemia
(
FHH
)
overlap
significantly
with
those
of
primary
hyperparathyroidism
(
PHPT
)
,
various
means
of
differentiating
between
the
two
diseases
have
been
suggested
.
Here
we
present
a
review
of
the
clinical
delineation
of
these
two
diseases
.
Review
of
the
English
language
literature
on
FHH
and
PHPT
.
FHH
is
a
rare
genetic
disorder
generally
resulting
in
asymptomatic
hypercalcemia
of
minimal
clinical
consequence
.
It
is
easily
misdiagnosed
as
PHPT
because
both
entities
can
manifest
as
hypercalcemia
with
an
inappropriately
normal
or
elevated
level
of
parathyroid
hormone
.
The
2
disorders
differ
in
renal
processing
of
calcium
,
and
a
number
of
indices
of
renal
calcium
excretion
have
been
proposed
to
differentiate
the
2
entities
.
However
,
the
two
disorders
have
considerable
overlaps
in
their
ranges
on
these
indices
making
differentiation
a
challenge
.
There
are
many
mutations
in
the
calcium-sensing
receptor
(
CaSR
)
gene
associated
with
FHH
and
it
is
becoming
increasingly
recognized
that
the
CaSR
has
broad
functional
variability
.
The
calcium
:
creatinine
clearance
ratio
(
CCCR
)
is
the
consensus
biochemical
test
to
differentiate
between
PHPT
and
FHH
.
However
,
this
test
is
still
limited
by
a
considerable
indeterminate
range
,
and
definitive
diagnosis
of
FHH
requires
genetic
testing
.
A
combination
of
clinical
suspicion
,
biochemical
testing
,
and
genetic
analysis
is
required
to
differentiate
PHPT
from
FHH
and
thus
spare
patients
with
FHH
from
nontherapeutic
operative
treatment
.
