Case Report: Nephrotic syndrome as the primary manifestation of Alport syndrome in a Chinese pediatric patient
Frontiers in Pediatrics,
Год журнала:
2025,
Номер
12
Опубликована: Янв. 8, 2025
Alport
syndrome
(AS)
is
a
genetically
heterogeneous
disorder
resulting
from
variants
in
genes
coding
for
the
alpha-3/4/5
chains
of
Collagen
IV,
leading
to
defective
basement
membranes
kidney,
cochlea,
and
eye.
The
clinical
manifestations
AS
vary
patients.
Cases
childhood
caused
by
COL4A3
presenting
primarily
with
nephrotic
(NS)
are
rarely
reported.
Here,
we
report
pediatric
case
initially
NS
attributed
COL4A3.
An
11-year-old
boy
presented
hematuria
range
proteinuria.
After
excluding
secondary
causes,
primary
was
considered.
He
administered
prednisone
(60
mg/day).
patient
had
not
responded
treatment
end
4
weeks,
so
he
diagnosed
steroid-resistant
NS.
A
renal
biopsy
showed
granular
vacuolar
degeneration
tubular
epithelial
cells,
multifocal
foam
cell
infiltration
interstitium,
immunofluorescence
indicated
absence
α3,
α4,
α5
expression
glomerular
membrane,
while
Bowman's
capsule
normal.
Electron
microscopy
ultrastructural
suggested
variable
membrane
thickness,
partial
tearing
web-like
structures.
Genetic
testing
revealed
heterozygous
missense
mutation
c.3210
(exon
37)G>A(NM:000091).
These
findings
consistent
diagnosis
AS.
Prednisone
gradually
tapered
enalapril
maleate
initiated.
We
have
described
featuring
as
its
manifestation.
It
important
consider
be
or
differential
patients
who
steroid
resistance.
Язык: Английский
Stipulations of cell and gene therapy and the ties to biomanufacturing
Justin Allisha,
J.J. Das,
Thomas Dunnigan
и другие.
Biotechnology Progress,
Год журнала:
2025,
Номер
unknown
Опубликована: Янв. 23, 2025
Abstract
Cell
and
gene
therapy
(CGT)
products
are
emerging
innovative
biopharmaceuticals
that
hold
promise
for
treating
diseases
otherwise
beyond
the
scope
of
conventional
medicines.
The
evolution
CGT
from
a
research
idea
to
promising
therapeutic
product
is
due
complementary
advancements
across
various
scientific
disciplines.
First,
innovations
in
editing
delivery
technology
have
provided
fundamental
tools
manipulate
genes
cells
pursuits.
Second,
applied
translational
research,
including
how
clinical
trials
designed,
performed,
evaluated,
analyzed,
transformed
into
potential
product.
Third,
scaling
up
production
been
critical
delivering
preclinical
studies,
trials,
approved
treatments.
In
parallel,
regulatory
requirements
continuously
evolved,
with
lessons
learned
studies
biomanufacturing.
These
combined
efforts
concept
reality
treat
wide
range
diseases.
However,
continued
R&D
oversight
crucial
further
improve
safety,
efficacy,
accessibility
products.
Язык: Английский
“ Advancing Nephrogenetics: Utilizing Single-Cell RNA Sequencing and Organoid Models for Precision Kidney Disease Treatment”
Mohanapriya C.D.,
Praveen Kumar Kochuthakidiyel Suresh
Current Pediatrics Reports,
Год журнала:
2025,
Номер
13(1)
Опубликована: Март 17, 2025
Язык: Английский
Advances in CRISPR-Cas systems for kidney diseases
Progress in molecular biology and translational science,
Год журнала:
2024,
Номер
unknown, С. 149 - 162
Опубликована: Авг. 17, 2024
Язык: Английский
Gene Therapy and kidney diseases
Molecular Therapy — Methods & Clinical Development,
Год журнала:
2024,
Номер
32(4), С. 101333 - 101333
Опубликована: Сен. 6, 2024
Язык: Английский
Alpha-adducin 1 (rs4961) gene and its expression associated with sodium sensitivity in hypertensive patients: a cohort study in the western Ukrainian population
Endocrine Regulations,
Год журнала:
2024,
Номер
58(1), С. 195 - 205
Опубликована: Янв. 1, 2024
Abstract
Objective.
The
aim
of
this
study
was
to
evaluate
the
association
α-adducin-1
gene
(
ADD1
)
(Gly460Trp
[rs4961])
polymorphism
and
its
expression
in
with
renal
dysfunction
sodium
sensitivity
hypertensive
patients
western
Ukrainian
population.
Methods.
One-hundred
essential
arterial
hypertension
(EAH)
hypertensive-mediated
target
organ
damage
(stage
2),
moderate,
high,
very
high
cardiovascular
risk
were
enrolled
case-control
study.
Sixty
healthy
individuals
assigned
as
controls.
Sodium
resistance
determined
by
salt
load
reaction.
(rs4961)
genotyping
performed
RT-PCR.
Results.
quantitative
trait
loci
(eQTL)
(chr4:2906707
[hg19])
confirmed
37
tissues
organs
23
phenotypic
traits.
Two
hundred
eQTL
associations
revealed
-
all
cis-variants
(cis-QTL);
73
methylation
QTL
(mQTL),
34
splicing
(sQTL),
14
histone
modification
(hQTL),
2
protein
(pQTL),
transcript
utilization
(tuQTL),
4
incorporated
long
noncoding
areas
RNA
(lncRNA).
GG-genotype
unreliably
enhances
EAH
(OR=1.92;
95%CI:
0.90–4.10;
p=0.066).
observed
54.0%
20.0%
controls
(c2=17.89;
p<0.001).
T-allele
carriers
(1378G>T;
rs4961)
dominated
12-fold
general
(OR
2.24–64.29;
p=0.001),
women
–
4.71
times
1.92–11.56;
p<0.001),
men
4.09
1.03–16.28;
p=0.041).
elevated
likelihood
severe
twice
(OR=2.19;
OR
1.00–5.05;
p=0.049).
Conclusion.
associates
increases
regardless
gender.
probability
Язык: Английский
Reactive Oxygen Species in Cystic Kidney Disease
Antioxidants,
Год журнала:
2024,
Номер
13(10), С. 1186 - 1186
Опубликована: Сен. 30, 2024
Polycystic
kidney
disease
(PKD)
is
a
rare
but
significant
renal
condition
with
major
implications
for
global
acute
and
chronic
patient
care.
Oxidative
stress
reactive
oxygen
species
(ROS)
can
significantly
alter
its
pathophysiology,
clinical
outcomes,
treatment,
contributing
to
negative
including
hypertension,
disease,
failure.
Inflammation
from
ROS
existing
cysts
propagate
the
generation
accumulation
of
ROS,
exacerbating
injury,
pro-fibrotic
signaling
cascades,
interstitial
fibrosis.
Early
identification
prevention
oxidative
contribute
reduced
cystic
progression
improved
longitudinal
outcomes.
Increased
research
regarding
biomarkers,
pathophysiology
stress,
novel
therapeutic
interventions
alongside
creation
comprehensive
guidelines
establishing
methods
assessment,
monitoring,
intervention
in
patients
imperative
standardize
practice
improve
The
integration
artificial
intelligence
(AI),
genetic
editing,
genome
sequencing
could
further
early
detection
management
mitigate
adverse
In
this
review,
we
aim
comprehensively
assess
multifactorial
role
analyzing
treatment
interventions,
trials,
animal
models,
future
directions
Язык: Английский