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Cystinuria: current diagnosis and management.
[cystinuria]
Cystinuria
is
an
inherited
disorder
of
the
dibasic
amino
acid
transport
system
in
the
proximal
tubule
and
the
small
intestine
.
Two
responsible
genes
have
been
identified
,
the
SLC
3
A
1
on
chromosome
2
and
the
SLC
7
A
9
on
chromosome
19
.
The
inability
of
renal
tubules
to
reabsorb
cystine
and
the
relative
insolubility
of
cystine
at
physiological
urine
pH
lead
to
stone
formation
.
Cornerstone
of
the
treatment
remains
stone
prevention
with
hyperhydration
,
urinary
alkalization
,
and
pharmacologic
therapy
.
Repeated
stone
formation
necessitates
urologic
interventions
,
which
mainly
include
minimally
invasive
procedures
.
The
appropriate
management
of
cystinuria
is
often
challenging
and
requires
close
follow-up
of
the
patient
.
