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C-type natriuretic peptide (CNP) plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia.
[achondroplasia]
Context
:
C-
type
natriuretic
peptide
(
CNP
)
is
a
crucial
regulator
of
endochondral
bone
growth
.
In
a
previous
report
of
a
child
with
acromesomelic
dysplasia
,
Maroteaux
type
(
AMDM
)
,
due
to
loss
-of-function
of
the
CNP
receptor
(
NPR-B
)
,
plasma
levels
of
CNP
were
elevated
.
In
vitro
studies
have
shown
that
activation
of
the
MEK
/
ERK
MAP
kinase
pathway
causes
functional
inhibition
of
NPR-B
.
Achondroplasia
,
hypochondroplasia
,
and
thanatophoric
dysplasia
are
syndromes
of
short-limbed
dwarfism
caused
by
activating
mutations
of
fibroblast
growth
factor
receptor-
3
,
which
result
in
over-activation
of
the
MEK
/
ERK
MAP
kinase
pathway
.
Objective
:
To
determine
if
these
syndromes
exhibit
evidence
of
CNP
resistance
as
reflected
by
increases
of
plasma
CNP
and
its
amino
terminal
propeptide
(
NTproCNP
)
.
Design
:
This
was
a
prospective
,
observational
study
.
Subjects
:
Participants
were
63
children
and
20
adults
with
achondroplasia
,
6
children
with
hypochondroplasia
,
2
children
with
thanatophoric
dysplasia
,
and
4
children
and
1
adult
with
AMDM
.
Results
:
Plasma
levels
of
CNP
and
NTproCNP
were
higher
in
children
with
achondroplasia
with
CNP
SD
scores
(
SDS
)
of
1
.
0
(
0
.
3
-
1
.
4
)
[
median
(
intraquartile
range
)
]
and
NTproCNP
SDS
of
1
.
4
(
0
.
4
-
1
.
8
)
(
p
<
0
.
0005
)
.
NTproCNP
levels
correlated
with
height
velocity
.
Levels
were
also
elevated
in
adults
with
achondroplasia
,
CNP
SDS
1
.
5
(
0
.
7
-
2
.
1
)
and
NTproCNP
SDS
0
.
5
(
0
.
1
-
1
.
0
)
,
p
<
0
.
005
.
In
children
with
hypochondroplasia
,
CNP
SDS
were
1
.
3
(
0
.
7
-
1
.
5
)
(
p
=
0
.
08
)
and
NTproCNP
SDS
were
1
.
9
(
1
.
8
-
2
.
3
)
(
p
<
0
.
05
)
.
In
children
with
AMDM
,
CNP
SDS
were
1
.
6
(
1
.
4
-
3
.
3
)
and
NTproCNP
SDS
were
4
.
2
(
2
.
7
-
6
.
2
)
(
p
<
0
.
01
)
.
Conclusions
:
In
these
skeletal
dysplasias
,
elevated
plasma
levels
of
proCNP
products
suggest
the
presence
of
tissue
resistance
to
CNP
.
Diseases
Validation
Diseases presenting
"elevated plasma levels of procnp products suggest the presence of tissue resistance to cnp"
symptom
achondroplasia
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