Rare Diseases Symptoms Automatic Extraction
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Autoimmune haematological disorders in two Italian children with Kabuki syndrome.
[kabuki syndrome]
Kabuki
syndrome
(
also
called
Niikawa-
Kuroki
syndrome
)
is
a
rare
genetic
disease
described
for
the
first
time
in
Japan
,
characterised
by
anomalies
in
multiple
organ
systems
and
often
associated
with
autoimmune
disorders
and
impaired
immune
response
.
We
herein
report
the
clinical
history
,
the
therapeutic
approach
and
the
outcome
of
two
children
with
Kabuki
syndrome
who
developed
autoimmune
haematological
disorders
(
haemolytic
anaemia
and
immune
thrombocytopenia
)
.
Factors
regarding
differential
diagnosis
and
interventions
in
better
management
of
this
syndrome
and
its
complications
are
discussed
.
This
is
the
first
report
of
Italian
children
with
autoimmune
haematological
disorders
complicating
Kabuki
syndrome
.
Diseases
Validation
Diseases presenting
"rare genetic disease"
symptom
achondroplasia
coats disease
cystinuria
epidermolysis bullosa simplex
fabry disease
kabuki syndrome
lymphangioleiomyomatosis
pendred syndrome
proteus syndrome
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