Russian Journal of Pediatric Surgery,
Год журнала:
2023,
Номер
27(6), С. 462 - 469
Опубликована: Дек. 26, 2023
BACKGROUND:
Autosomal
dominant
polycystic
kidney
disease
is
currently
the
most
common
inherited
form
of
cystic
disease,
frequency
which
about
1
per
400–1000
newborns,
what
makes
problem
relevant.
Its
progressive
course
in
patients
with
primarily
associated
ischemic
component,
severity
depends
on
number,
location
and
size
cysts.
Arterial
hypertension,
an
autosomal
complication,
plays
a
leading
role
renal
failure
progression.
Given
current
lack
specific
treatment,
main
therapeutic
goal
to
prevent
complications,
postpone
development
failure.
Therefore,
if
there
are
large
giant
cysts,
surgical
treatment
effective
modality
should
be
performed
timely
manner.
CLINICAL
CASE
DESCRIPTION:
The
authors
present
clinical
case
successful
endovideosurgical
cyst
excision
-year-old
patient
right
kidney,
hypertension
genesis.
Endovideosurgical
cystectomy
has
become
important
pathogenetic
link
this
pathology.
Currently,
under
dynamic
follow-up
for
more
than
one
year.
During
period,
demonstrates
relief
urinary
syndrome
disappeared
haematuria,
stabilization
albuminuria
indices,
improvement
blood
flow
parameters
parenchyma,
as
well
arterial
pressure.
CONCLUSION:
given
example
that
reasonable
intervention
choice
rational
method
access,
taking
into
account
anatomical
localization
formation,
allowed
obtain
good
result
hemodynamics
disease.
American Journal of Medical Genetics Part C Seminars in Medical Genetics,
Год журнала:
2022,
Номер
190(3), С. 309 - 324
Опубликована: Сен. 1, 2022
The
clinical
characteristics
of
autosomal
dominant
tubulointerstitial
kidney
disease
(ADTKD)
include
bland
urinary
sediment,
slowly
progressive
chronic
(CKD)
with
many
patients
reaching
end
stage
renal
(ESRD)
between
age
20
and
70
years,
inheritance.
Due
to
advances
in
genetic
diagnosis,
ADTKD
is
becoming
increasingly
recognized
as
a
cause
CKD.
Pathogenic
variants
UMOD,
MUC1,
REN
are
the
most
common
causes
ADTKD.
ADTKD-UMOD
also
associated
hyperuricemia
gout.
ADTKD-REN
often
presents
childhood
mild
hypotension,
CKD,
hyperkalemia,
acidosis,
anemia.
ADTKD-MUC1
present
only
This
review
describes
pathophysiology,
genetics,
manifestation,
diagnosis
for
ADTKD,
an
emphasis
on
testing
counseling
suggestions
patients.
Integrative Medicine in Nephrology and Andrology,
Год журнала:
2025,
Номер
12(1)
Опубликована: Март 1, 2025
Autosomal
dominant
tubulointerstitial
kidney
disease
(ADTKD)
is
increasingly
recognized
as
a
significant
contributor
to
chronic
(CKD),
attributed
mutations
in
at
least
five
genes:
UMOD,
MUC1,
HNF1B,
REN,
and
SEC61A1
.
ADTKD
typically
presents
slowly
progressive
CKD
with
variable
clinical
features
such
hyperuricemia
tubular
proteinuria,
complicating
its
diagnosis.
The
often
undiagnosed
until
advanced
stages
due
insidious
onset
nonspecific
indicators.
This
review
synthesizes
current
knowledge
on
the
manifestations,
pathological
features,
emerging
biomarkers
of
ADTKD,
emphasizing
complexity
heterogeneity
disease.
Treatment
options
are
limited,
most
approaches
focus
controlling
blood
pressure,
uric
acid
levels,
anemia
delay
failure,
uncertain
efficacy
slowing
progression.
Integrative
strategies,
including
traditional
Chinese
medicine
(TCM),
have
shown
promise
mitigating
core
processes
renal
interstitial
fibrosis
may
offer
complementary
avenue
improve
patient
outcomes.
Effective
remain
crucial
for
early
diagnosis
personalized
interventions,
future
integration
genomics,
proteomics,
metabolomics
warranted
reveal
biological
networks
molecular
mechanisms
identifying
new
potential
therapeutic
targets.
Genes,
Год журнала:
2025,
Номер
16(4), С. 408 - 408
Опубликована: Март 31, 2025
Background:
Genetic
causes
of
chronic
diseases,
once
considered
rare
in
adult-onset
disease,
now
account
for
between
10
and
20%
cases
kidney
disease
(CKD).
Confirming
a
genetic
diagnosis
can
influence
management;
however,
the
utility
testing
older
adults
remains
poorly
understood,
partly
due
to
age-based
restrictions
on
access.
To
better
evaluate
diagnostic
yield
clinical
this
population,
we
analyzed
data
from
aged
≥50
years
with
CKD
who
were
assessed
specialized
genetics
clinic.
Methods:
We
studied
cohort
125
at
time
testing.
included
gene
panels
targeting
disease-related
genes
based
phenotype,
and/or
exome
sequencing
additional
monogenic
if
initial
panel
was
inconclusive.
Results:
Pathogenic
variants
identified
38%
patients.
The
highest
(48%)
patients
50–54
years.
most
common
post-testing
glomerulopathies
(32%).
Clinical
utility,
shown
through
case
series,
modifications
treatment
management,
as
well
reduction
odyssey.
Conclusions:
Our
findings
dedicated
Kidney
Genetics
Clinic
show
that
has
significant
utility.
These
results
support
guideline
recommendations
there
should
be
no
upper
age
limit
Future
research
unselected
populations
is
needed
establish
broader
applicability
feasibility
adults.
Kidney Medicine,
Год журнала:
2023,
Номер
5(7), С. 100668 - 100668
Опубликована: Май 15, 2023
As
genetic
testing
is
increasingly
integrated
into
nephrology
practice
there
a
growing
need
for
partnership
with
experts.
Genetic
counselors
are
ideally
suited
to
fill
this
role.
The
value
of
counseling
born
out
the
clinical
test
results
against
backdrop
complexity
testing.
who
specialize
in
trained
understand
and
explain
potential
effects
genes
on
kidney
disease,
which
can
enable
patients
make
informed
decisions
about
proceeding
testing,
navigating
variants
uncertain
significance,
educating
extrarenal
features
hereditary
facilitating
cascade
providing
post-test
education
results,
assisting
family
planning.
partner
nephrologist
provide
knowledge
needed
maximize
use
consultation.
more
than
an
element
or
extension
testing;
it
dynamic,
shared
conversation
between
patient
counselor
where
concerns,
sentiments,
information,
exchanged,
value-based
decision
making
facilitated.
Kidney International,
Год журнала:
2023,
Номер
105(4), С. 799 - 811
Опубликована: Дек. 12, 2023
Sporadic
cases
of
apolipoprotein
A-IV
medullary
amyloidosis
have
been
reported.
Here
we
describe
five
families
found
to
autosomal
dominant
due
two
different
pathogenic
APOA4
variants.
A
large
family
with
chronic
kidney
disease
(CKD)
and
bland
urinary
sediment
underwent
whole
genome
sequencing
identification
a
chr11:116692578
G>C
(hg19)
variant
encoding
the
missense
mutation
p.L66V
ApoA4
protein.
We
identified
other
distantly
related
from
our
registry
same
chr11:116693454
C>T
p.D33N.
Both
mutations
are
unique
affected
families,
evolutionarily
conserved
predicted
expand
amyloidogenic
hotspot
in
structure.
Clinically
individuals
suffered
CKD
mean
age
for
failure
64.5
years.
Genotyping
48
genetically
individuals;
44
had
an
estimated
glomerular
filtration
rate
(eGFR)
under
60
ml/min/1.73
m
