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Role of Pendrin in Acid-base Balance.
[pendred syndrome]
Pendrin
(
SLC
26
A
4
)
is
a
Na
(
+
)
-
independent
Cl
(
-
)
/
HCO
(
3
)
(
-
)
exchanger
which
is
expressed
in
the
apical
membranes
of
type
B
and
non-
A
,
non-
B
intercalated
cells
within
the
distal
convoluted
tubule
,
the
connecting
tubule
,
and
the
cortical
collecting
duct
.
In
those
segments
it
mediates
HCO
(
3
)
(
-
)
secretion
and
chloride
(
Cl
(
-
)
)
absorption
.
In
mice
,
no
renal
abnormalities
are
observed
under
basal
conditions
,
and
individuals
with
genetic
disruption
of
the
pendrin
(
SLC
26
A
4
)
gene
(
Pendred
syndrome
)
have
normal
acid-base
balance
.
In
contrast
,
there
are
definite
differences
under
conditions
wherein
the
transporter
is
stimulated
.
In
animal
studies
,
pendrin
(
SLC
26
A
4
)
is
upregulated
with
aldosterone
analogues
,
Cl
(
-
)
restriction
,
and
metabolic
alkalosis
,
and
is
down-regulated
with
Cl
loading
and
metabolic
acidosis
,
independently
.
However
,
the
exact
role
of
pendrin
in
humans
has
not
been
established
to
date
,
and
further
examinations
are
necessary
.
Diseases
Validation
Diseases presenting
"metabolic alkalosis"
symptom
cushing syndrome
hirschsprung disease
pendred syndrome
This symptom has already been validated
