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Fourteen Monogenic Genes Account for 15% of Nephrolithiasis/Nephrocalcinosis.
[cystinuria]
Nephrolithiasis
is
a
prevalent
condition
with
a
high
morbidity
.
Although
dozens
of
monogenic
causes
have
been
identified
,
the
fraction
of
single
-
gene
disease
has
not
been
well
studied
.
To
determine
the
percentage
of
cases
that
can
be
molecularly
explained
by
mutations
in
1
of
30
known
kidney
stone
genes
,
we
conducted
a
high
-throughput
mutation
analysis
in
a
cohort
of
consecutively
recruited
patients
from
typical
kidney
stone
clinics
.
The
cohort
comprised
272
genetically
unresolved
individuals
(
106
children
and
166
adults
)
from
268
families
with
nephrolithiasis
(
n
=
256
)
or
isolated
nephrocalcinosis
(
n
=
16
)
.
We
detected
50
likely
causative
mutations
in
14
of
30
analyzed
genes
,
leading
to
a
molecular
diagnosis
in
14
.
9
%
(
40
of
268
)
of
all
cases
;
20
of
50
detected
mutations
were
novel
(
40
%
)
.
The
cystinuria
gene
SLC
7
A
9
(
n
=
19
)
was
most
frequently
mutated
.
The
percentage
of
monogenic
cases
was
notably
high
in
both
the
adult
(
11
.
4
%
)
and
pediatric
cohorts
(
20
.
8
%
)
.
Recessive
causes
were
more
frequent
among
children
,
whereas
dominant
disease
occurred
more
abundantly
in
adults
.
Our
study
provides
an
in
-depth
analysis
of
monogenic
causes
of
kidney
stone
disease
.
We
suggest
that
knowledge
of
the
molecular
cause
of
nephrolithiasis
and
nephrocalcinosis
may
have
practical
implications
and
might
facilitate
personalized
treatment
.
Diseases
Validation
Diseases presenting
"genetically unresolved individuals"
symptom
cystinuria
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