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Clinical and molecular spectrum of renal malformations in Kabuki syndrome.
[kabuki syndrome]
To
determine
the
frequency
and
types
of
renal
malformations
,
and
to
evaluate
renal
function
in
a
cohort
of
patients
with
Kabuki
syndrome
(
KS
)
.
Renal
ultrasound
scans
and
plasma
creatinine
measurements
were
collected
from
a
French
cohort
of
94
patients
with
genotyped
KS
.
Renal
function
was
evaluated
based
on
the
estimated
glomerular
filtration
rate
.
A
genotype-phenotype
study
was
conducted
for
renal
and
urinary
tract
malformations
.
Renal
malformations
were
present
in
22
%
of
cases
,
and
urinary
tract
anomalies
were
present
in
15
%
.
Renal
malformations
were
observed
in
28
%
of
the
MLL
2
mutation
-
positive
group
and
in
0
%
of
the
MLL
2
mutation
-negative
group
(
P
=
.
015
)
.
No
correlation
was
found
between
the
presence
or
absence
of
renal
or
urinary
tract
malformations
and
the
location
or
type
of
MLL
2
mutation
.
Renal
function
was
normal
except
for
1
patient
with
a
MLL
2
mutation
diagnosed
in
the
first
days
of
life
and
severe
renal
disease
due
to
unilateral
renal
agenesia
and
controlateral
severe
hypoplasia
that
progressed
to
the
terminal
stage
at
age
2
years
.
Our
study
emphasizes
the
need
for
ultrasound
and
renal
function
screening
in
children
diagnosed
with
KS
.
Diseases
Validation
Diseases presenting
"first days"
symptom
aromatase deficiency
classical phenylketonuria
familial hypocalciuric hypercalcemia
harlequin ichthyosis
kabuki syndrome
neonatal adrenoleukodystrophy
phenylketonuria
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