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[Familial hypocalciuric hypercalcemia: a new mutation].
[familial hypocalciuric hypercalcemia]
Familial
hypocalciuric
hypercalcemia
(
FHH
)
is
a
cause
of
hypercalcemia
with
autosomal
dominant
pattern
of
inheritance
and
high
penetrance
.
In
most
of
the
cases
it
can
be
shown
to
be
due
to
an
inactivating
mutation
on
the
gene
coding
for
the
calcium-sensing
receptor
(
CaSR
)
.
Heterozygous
cases
usually
do
not
present
symptoms
and
they
are
diagnosed
as
an
incidental
finding
.
We
report
three
affected
children
with
an
inactivating
heterozygous
mutation
,
p
.
Phe
789
del
,
in
exon
7
of
the
calcium-sensing
receptor
gene
(
CASR
gene
)
,
situated
in
chromosome
3
q
21
(
Ensembl
ENSG
00000036828
)
,
which
results
in
elevated
serum
calcium
,
normal
o
high
level
of
parathyroid
hormone
(
PTH
)
and
reduced
urinary
excretion
with
hypocalciuria
.
It
is
very
important
to
determine
the
difference
between
FHH
and
primary
hyperparathyroidism
.
Therefore
,
in
a
mild
to
moderate
PTH
-dependent
hypercalcemia
we
must
perform
a
family
study
and
determine
the
urinary
excretion
of
calcium
.
The
presence
of
any
other
affected
family
member
or
reduced
urinary
calcium
excretion
is
enough
to
suspect
FHH
,
and
this
should
be
confirmed
by
the
mutational
analysis
of
the
CASR
gene
,
in
order
to
establish
the
correct
diagnosis
,
differentiated
from
primary
hyperparathyroidism
,
to
avoid
unnecessary
investigations
or
operations
.
Diseases
Validation
Diseases presenting
"hypercalcemia"
symptom
carcinoma of the gallbladder
cushing syndrome
familial hypocalciuric hypercalcemia
kabuki syndrome
severe combined immunodeficiency
waldenström macroglobulinemia
This symptom has already been validated
