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Prevalence of hypocalcaemia and its associated features in 22q11ยท2 deletion syndrome.
[22q11.2 deletion syndrome]
22
q
11
.
2
deletion
syndrome
(
22
q
11
.
2
DS
)
is
a
relatively
common
yet
under-recognized
genetic
syndrome
that
may
present
with
endocrine
features
.
We
aimed
to
address
the
factors
that
contribute
to
the
high
prevalence
of
hypocalcaemia
.
We
investigated
hypocalcaemia
in
a
well-characterized
sample
of
138
adults
with
22
q
11
.
2
DS
(
65
m
,
73
F
;
mean
age
34
.
2
,
SD
11
.
8
,
years
)
using
laboratory
studies
and
lifelong
medical
records
.
Logistic
regression
modelling
was
used
to
identify
features
associated
with
lifetime
prevalence
of
hypocalcaemia
.
Of
the
total
sample
,
111
(
80
.
4
%
)
had
a
lifetime
history
of
hypocalcaemia
.
Eleven
(
84
.
6
%
)
of
13
subjects
with
neonatal
hypocalcaemia
had
documented
recurrence
of
hypocalcaemia
.
Lifetime
history
of
hypocalcaemia
was
associated
with
lifetime
prevalence
of
hypoparathyroidism
(
P
<
0
.
0001
)
and
hypothyroidism
(
P
=
0
.
04
)
,
as
statistically
independent
factors
.
Hypomagnesaemia
was
associated
with
concurrent
hypocalcaemic
measurements
,
especially
in
the
presence
of
concurrent
hypoparathyroidism
(
P
=
0
.
02
)
.
The
results
suggest
that
,
in
addition
to
the
major
effect
of
hypoparathyroidism
,
hypothyroidism
may
play
a
role
in
hypocalcaemia
in
22
q
11
.
2
DS
and
that
there
is
a
high
recurrence
rate
of
neonatal
hypocalcaemia
.
Hypomagnesaemia
may
contribute
to
hypocalcaemia
by
further
suppressing
parathyroid
hormone
(
PTH
)
.
Although
further
studies
are
needed
,
the
findings
support
regular
lifelong
follow-up
of
calcium
,
magnesium
,
PTH
and
TSH
levels
in
patients
with
22
q
11
.
2
DS
.
At
any
age
,
hypocalcaemia
with
hypoparathyroidism
and
/
or
hypothyroidism
may
suggest
a
diagnosis
of
22
q
11
.
2
DS
.
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