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Cardiometabolic phenotyping of patients with familial hypocalcuric hypercalcemia.
[familial hypocalciuric hypercalcemia]
Heterozygous
inactivating
mutations
of
the
calcium-sensing
receptor
(
CaSR
)
gene
cause
alterations
in
calcium
metabolism
[
familial
hypocalciuric
hypercalcemia
(
FHH
)
]
.
In
addition
,
calcium-sensing
receptor
is
expressed
in
the
myocardium
and
endocrine
cells
including
pancreatic
islets
,
enteroendocrine
cells
,
and
adipose
tissue
.
To
discern
whether
FHH
is
associated
with
cardiometabolic
alterations
of
clinical
significance
,
endocrine
responses
to
systemic
calcium
stimulation
and
oral
glucose
tolerance
tests
were
performed
.
Ectopic
lipid
deposition
and
heart
function
were
assessed
using
magnetic
resonance
spectroscopy
/
imaging
.
Eight
FHH
patients
and
nine
controls
matched
for
anthropometric
characteristics
(
age
45
±
18
y
;
body
mass
index
29
±
4
vs
29
±
6
kg
/
m
(
2
)
)
were
studied
to
determine
cardiac
function
,
ectopic
and
visceral
lipid
content
,
and
insulin
sensitivity
and
secretion
.
Insulin
sensitivity
(
clamp-like
index
:
4
.
5
±
0
.
6
vs
4
.
3
±
0
.
4
mg
/
kg
·
min
)
,
basal
(
insulin
secretion
rate
:
266
±
33
vs
218
±
25
pmol
/
min
)
,
and
glucose-stimulated
β-cell
function
(
adaptation
index
:
180
.
2
±
12
.
2
vs
176
.
2
±
17
.
4
)
as
well
as
calcium
-stimulated
insulin
secretion
were
comparable
between
FHH
and
controls
,
respectively
.
Ectopic
lipid
content
in
liver
[
3
.
75
%
(
1
.
4
%
;
34
%
)
vs
4
.
18
%
(
0
.
9
%
;
28
%
)
]
,
soleus
muscle
(
1
.
07
%
±
0
.
38
%
vs
1
.
02
%
±
0
.
56
%
)
,
and
myocardium
(
0
.
39
%
±
0
.
3
%
vs
0
.
32
%
±
0
.
1
%
)
,
visceral
and
sc
adipose
tissue
distribution
(
0
.
51
±
0
.
16
vs
0
.
47
±
0
.
17
)
as
well
as
heart
function
(
ejection
fraction
:
71
.
5
%
±
8
%
vs
72
.
8
%
±
8
%
;
E
to
A
ratio
:
1
.
4
%
±
0
.
6
%
vs
1
.
3
%
±
0
.
7
%
)
were
not
different
between
the
groups
.
Despite
comprehensive
cardiometabolic
phenotyping
,
no
alterations
in
myocardial
function
,
lipid
distribution
,
or
glucose
metabolism
were
observed
in
FHH
.
Thus
,
FHH
might
reflect
a
laboratory
finding
without
any
relevant
cardiometabolic
alterations
.
Diseases
Validation
Diseases presenting
"cardiometabolic alterations of clinical significance"
symptom
familial hypocalciuric hypercalcemia
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