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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
"first time"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
carcinoma of the gallbladder
cholangiocarcinoma
classical phenylketonuria
congenital adrenal hyperplasia
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dentin dysplasia
dentinogenesis imperfecta
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
gm1 gangliosidosis
harlequin ichthyosis
heparin-induced thrombocytopenia
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
phenylketonuria
primary effusion lymphoma
primary hyperoxaluria type 1
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
trochlear dysplasia
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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