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[Childhood genetic renal diseases in southern Israel].
[cystinuria]
Genetic
kidney
diseases
(
GKDs
)
are
an
important
and
well-known
entity
in
pediatric
nephrology
.
Advances
in
genetic
and
molecular
approaches
in
the
last
15
years
have
enabled
elucidation
of
the
underlying
molecular
defects
in
many
of
these
disorders
.
Herein
,
the
authors
summarize
the
progress
that
has
been
made
over
this
period
in
disclosing
the
molecular
basis
of
several
novel
GKDs
which
were
characterized
in
this
area
and
include
Bartter
syndrome
type
IV
,
type
II
Bartter
syndrome
and
transient
neonatal
hyperkalemia
,
cystinuria
and
mental
retardation
,
familial
hypomagnesemia
with
secondary
hypocalcemia
,
infantile
nephronophthisis
and
familial
hemolytic
uremic
syndrome
with
factor
H
deficiency
.
Retrospective
analysis
of
the
authors
'
data
reveals
that
GKDs
are
over-represented
among
the
pediatric
population
in
southern
Israel
.
GKD
are
seen
4
times
more
often
than
end-
stage
renal
disease
(
ESRD
)
and
comprise
38
%
of
all
cases
of
ESRD
in
our
area
.
This
high
rate
of
GKD
is
mainly
due
to
the
high
frequency
of
consanguineous
marriages
that
prevails
in
this
area
.
Understanding
of
the
genetic
and
molecular
background
of
these
diseases
is
a
result
of
a
fruitful
collaboration
between
the
pediatric
nephrologists
and
scientists
,
and
has
a
direct
implication
on
the
diagnosis
and
treatment
of
the
affected
families
.
