Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Results from 28 years of newborn screening for congenital adrenal hyperplasia in sapporo.
[congenital adrenal hyperplasia]
The
primary
goal
of
newborn
mass
screening
(
MS
)
for
congenital
adrenal
hyperplasia
(
CAH
)
is
the
prevention
of
life-threatening
salt-wasting
crisis
in
the
most
severe
forms
of
CAH
,
and
MS
for
CAH
has
been
implemented
in
several
countries
.
We
summarize
here
our
experience
and
results
from
newborn
CAH
MS
from
1982
to
2010
in
Sapporo
City
.
During
these
28
yr
,
the
level
of
17
-
hydroxyprogesterone
(
17
-
OHP
)
was
determined
in
MS
of
samples
from
498
,
147
newborns
.
During
this
period
,
26
individuals
(
19
females
and
7
males
)
with
21
-
hydroxylase
deficiency
(
21
-
OHD
)
were
detected
.
Of
the
26
CAH
,
20
were
classified
as
having
the
salt-wasting
(
SW
)
form
,
4
were
classified
as
having
the
simple
virilizing
(
SV
)
form
,
and
2
were
classified
as
having
the
noncalssic
(
NC
)
form
.
Therefore
,
the
frequency
of
the
classical
type
of
CAH
was
1
in
20
,
756
.
In
order
to
improve
the
effectiveness
,
we
employed
high
-performance
liquid
chromatography
(
HPLC
)
as
a
second
tier
test
from
2000
.
During
this
period
,
among
the
recalled
babies
,
75
.
4
%
were
born
prior
to
the
37
th
wk
of
gestation
age
,
and
the
recall
rate
was
5
.
38
%
for
premature
neonates
and
0
.
06
%
for
mature
neonates
.
MS
for
CAH
in
Sapporo
is
effective
for
the
identification
of
the
SW
and
SV
forms
of
21
-
OHD
.
However
,
the
recall
rate
of
premature
babies
is
still
high
after
the
introduction
of
HPLC
as
a
second
tier
test
.
Diseases
Validation
Diseases presenting
"primary goal"
symptom
achondroplasia
adrenomyeloneuropathy
congenital adrenal hyperplasia
phenylketonuria
x-linked adrenoleukodystrophy
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom