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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
"hypothyroidism"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
adrenomyeloneuropathy
alpha-thalassemia
aromatase deficiency
congenital adrenal hyperplasia
cowden syndrome
cushing syndrome
familial mediterranean fever
gm1 gangliosidosis
harlequin ichthyosis
hirschsprung disease
inclusion body myositis
kallmann syndrome
pendred syndrome
proteus syndrome
pyruvate dehydrogenase deficiency
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated