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Gastrointestinal involvement in patients affected with 22q11.2 deletion syndrome.
[22q11.2 deletion syndrome]
OBJECTIVE
.
Enteropathy
is
a
very
common
feature
in
patients
with
primary
immunodeficiencies
.
In
patients
with
Del
22
gastrointestinal
(
GI
)
alterations
,
including
feeding
disorders
and
congenital
abnormalities
have
been
often
reported
,
mostly
in
the
first
year
of
life
.
MATERIAL
AND
METHODS
.
Aim
of
this
monocentric
study
is
to
better
define
the
GI
involvement
in
a
cohort
of
26
patients
affected
with
Del
22
syndrome
.
Anamnestic
information
was
retrospectively
collected
for
each
patient
.
Weight
and
height
parameters
at
the
time
of
the
screening
were
recorded
.
Plasma
levels
of
hemoglobin
,
iron
,
ferritin
,
albumin
,
total
protein
,
calcium
,
phosphorus
,
transaminase
levels
,
antigliadin
(
AGA
)
IgA
and
IgG
,
and
antitissue
transglutaminase
(
anti-
TGase
)
titers
were
measured
.
RESULTS
.
A
GI
involvement
was
identified
in
the
58
%
of
patients
.
The
prominent
problems
were
abdominal
pain
,
vomiting
,
gastroesophageal
reflux
and
chronic
constipation
.
Weight
deficiency
,
short
stature
and
failure
to
thrive
were
reported
in
54
,
42
,
and
30
%
of
the
patients
,
respectively
.
The
evidence
of
sideropenic
anemia
,
in
keeping
with
hypoproteinemia
,
impaired
acid
steatocrit
or
cellobiose
/
mannitol
test
suggested
an
abnormal
intestinal
permeability
.
In
this
cohort
,
a
high
prevalence
of
AGA
IgA
and
IgG
positivity
was
observed
.
Celiac
disease
(
CD
)
was
suspected
in
three
patients
,
and
in
one
of
them
confirmed
by
histology
.
In
this
patient
,
a
long
-lasting
gluten-free
diet
failed
to
restore
the
intestinal
architecture
.
CONCLUSIONS
.
In
conclusion
,
GI
involvement
is
a
very
common
feature
in
Del
22
patients
.
A
better
characterization
of
GI
involvement
would
be
very
useful
to
improve
the
management
of
these
patients
.
Diseases
Validation
Diseases presenting
"very common feature"
symptom
22q11.2 deletion syndrome
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