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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
"severe forms"
symptom
classical phenylketonuria
congenital adrenal hyperplasia
congenital toxoplasmosis
cystinuria
dentin dysplasia
dentinogenesis imperfecta
dystrophic epidermolysis bullosa
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kindler syndrome
omenn syndrome
primary hyperoxaluria type 1
pyomyositis
severe combined immunodeficiency
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