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Life-threatening metabolic alkalosis in Pendred syndrome.
[pendred syndrome]
Pendred
syndrome
,
a
combination
of
sensorineural
deafness
,
impaired
organification
of
iodide
in
the
thyroid
and
goitre
,
results
from
biallelic
defects
in
pendrin
(
encoded
by
SLC
26
A
4
)
,
which
transports
chloride
and
iodide
in
the
inner
ear
and
thyroid
respectively
.
Recently
,
pendrin
has
also
been
identified
in
the
kidneys
,
where
it
is
found
in
the
apical
plasma
membrane
of
non-
α-
type
intercalated
cells
of
the
cortical
collecting
duct
.
Here
,
it
functions
as
a
chloride-bicarbonate
exchanger
,
capable
of
secreting
bicarbonate
into
the
urine
.
Despite
this
function
,
patients
with
Pendred
syndrome
have
not
been
reported
to
develop
any
significant
acid-base
disturbances
,
except
a
single
previous
reported
case
of
metabolic
alkalosis
in
the
context
of
Pendred
syndrome
in
a
child
started
on
a
diuretic
.
We
describe
a
46
-
year
-old
female
with
sensorineural
deafness
and
hypothyroidism
,
who
presented
with
severe
hypokalaemic
metabolic
alkalosis
during
inter-current
illnesses
on
two
occasions
,
and
who
was
found
to
be
homozygous
for
a
loss
-of-function
mutation
(
V
138
F
)
in
SLC
26
A
4
.
Her
acid-base
status
and
electrolytes
were
unremarkable
when
she
was
well
.
This
case
illustrates
that
,
although
pendrin
is
not
usually
required
to
maintain
acid-base
homeostasis
under
ambient
condition
,
loss
of
renal
bicarbonate
excretion
by
pendrin
during
a
metabolic
alkalotic
challenge
may
contribute
to
life-threatening
acid-base
disturbances
in
patients
with
Pendred
syndrome
.
Diseases
Validation
Diseases presenting
"non-α-type intercalated cells of the cortical collecting duct"
symptom
pendred syndrome
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