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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
"first year"
symptom
22q11.2 deletion syndrome
achondroplasia
alpha-thalassemia
aniridia
benign recurrent intrahepatic cholestasis
child syndrome
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cowden syndrome
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erythropoietic protoporphyria
gm1 gangliosidosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
krabbe disease
lymphangioleiomyomatosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
neonatal adrenoleukodystrophy
phenylketonuria
pleomorphic liposarcoma
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
sneddon syndrome
waldenström macroglobulinemia
wolf-hirschhorn syndrome
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