Pediatrics & Neonatology,
Год журнала:
2024,
Номер
unknown
Опубликована: Окт. 1, 2024
Alport
syndrome
(AS)
is
the
second
common
monogenic
cause
of
end-stage
kidney
disease
(ESKD)
worldwide
and
caused
by
defective
type
4
collagen
due
to
pathogenic
variants
COL4A3,
COL4A4,
or
COL4A5.
Type
also
exists
in
eyes
ears,
thus
ocular
defects
hearing
loss
occur
AS.
The
understanding
AS
has
expanded
over
past
two
decades
greater
availability
genetic
testing
research
on
genotype-phenotype
correlation.
Patients
previously
diagnosed
with
idiopathic
steroid
resistant
nephrotic
ESKD
unknown
etiology
may
now
be
as
if
COL4A3-5
are
identified.
Some
carriers
heterozygous
classified
into
females
X-linked
autosomal
dominant
AS,
there
typical
pathologic
changes
glomerular
basement
membrane
proteinuria
progression
disease.
Lastly,
it
been
recommended
that
renin-angiotensin-aldosterone
system
inhibition
started
soon
possible
for
selected
patients
its
long-term
protective
effect
against
function
deterioration.
purpose
this
review
introduce
these
important
concepts
general
pediatricians
pediatric
nephrologists.
Clinical Kidney Journal,
Год журнала:
2024,
Номер
17(8)
Опубликована: Июль 23, 2024
ABSTRACT
Background
Idiopathic
nephrotic
syndrome
(NS)
in
children
poses
treatment
challenges,
with
a
subset
developing
steroid-resistant
(SRNS).
Genetic
factors
play
role,
yet
data
on
paediatric
SRNS
genetics
India
are
scarce.
We
conducted
prospective
study
using
whole-exome
sequencing
to
explore
genetic
variants
and
their
clinical
correlations.
Methods
A
single-centre
(October
2018–April
2023)
enrolled
SRNS,
undergoing
renal
biopsy
testing
per
institutional
protocol.
Clinical,
histological,
were
recorded.
DNA
isolation
next-generation
for
analysis.
Data
collection
included
demographics,
parameters,
kidney
findings.
Syndromic
features
evaluated,
second-line
immunosuppressive
therapy
administered.
Patient
outcomes
presented
patients
without
variants.
Results
total
of
680
NS
analysed,
121
(17.8%)
having
96
consent
69
(71.9%)
had
early
27
(28.1%)
late.
Among
participants,
62
(64.58%)
reportable
The
most
common
COL4A
genes,
20
(31.7%)
positive.
Renal
showed
focal
segmental
glomerulosclerosis
31/42
(74%)
variants,
16/28
(57.1%)
Second-line
immunosuppressions
varied,
CNIs
the
common.
Outcomes
partial
or
complete
remission
achieved
some
while
others
progressed
ESRD.
Conclusion
underscores
importance
analysis
revealing
65.7%
cases.
predominant.
Variants
correlated
varied
outcomes,
highlighting
potential
prognostic
implications.
These
findings
emphasize
value
personalized
approaches
further
research
managing
SRNS.
Pediatrics & Neonatology,
Год журнала:
2024,
Номер
unknown
Опубликована: Окт. 1, 2024
Alport
syndrome
(AS)
is
the
second
common
monogenic
cause
of
end-stage
kidney
disease
(ESKD)
worldwide
and
caused
by
defective
type
4
collagen
due
to
pathogenic
variants
COL4A3,
COL4A4,
or
COL4A5.
Type
also
exists
in
eyes
ears,
thus
ocular
defects
hearing
loss
occur
AS.
The
understanding
AS
has
expanded
over
past
two
decades
greater
availability
genetic
testing
research
on
genotype-phenotype
correlation.
Patients
previously
diagnosed
with
idiopathic
steroid
resistant
nephrotic
ESKD
unknown
etiology
may
now
be
as
if
COL4A3-5
are
identified.
Some
carriers
heterozygous
classified
into
females
X-linked
autosomal
dominant
AS,
there
typical
pathologic
changes
glomerular
basement
membrane
proteinuria
progression
disease.
Lastly,
it
been
recommended
that
renin-angiotensin-aldosterone
system
inhibition
started
soon
possible
for
selected
patients
its
long-term
protective
effect
against
function
deterioration.
purpose
this
review
introduce
these
important
concepts
general
pediatricians
pediatric
nephrologists.
