Rare Diseases Symptoms Automatic Extraction
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Diffuse mesangial sclerosis - Report of two cases.
[aniridia]
Diffuse
mesangial
sclerosis
(
DMS
)
is
a
rare
cause
of
nephrotic
syndrome
in
the
infantile
and
childhood
period
.
DMS
is
a
phenotypic
expression
of
syndromic
entities
such
as
WAGR
syndrome
(
Wilms
'
tumor
,
aniridia
,
genitourinary
anomalies
and
mental
retardation
)
,
Denys
Drash
syndrome
,
Pierson
syndrome
,
Frasier
syndrome
,
or
Galloway-
Mowat
syndrome
.
We
report
two
cases
of
DMS
,
one
presenting
in
first
year
of
life
and
another
in
second
decade
of
life
.
Both
of
them
had
fatal
outcome
.
Recognition
of
the
disease
is
very
important
in
modifying
the
management
of
patient
and
active
surveillance
of
family
members
.
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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