Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
[Nephrolithiasis: metabolic defects and terapeutic implications].
[cystinuria]
Over
the
past
10
years
,
major
progress
has
been
made
in
the
knowledge
of
urinary
lithogenesis
,
including
the
potential
pathogenetic
role
of
Randall
's
plaques
and
renal
tubular
crystal
retention
.
Urine
supersaturation
is
the
driving
force
of
this
process
and
can
be
induced
by
some
risk
factors
,
including
low
urine
volume
,
high
urinary
excretion
of
calcium
oxalate
and
uric
acid
and
low
urinary
excretion
of
citrate
.
Primary
hypercalciuria
can
be
due
to
intestinal
overabsorption
renal
leak
and
bone
reabsorption
of
calcium
.
Prophilaxis
is
mainly
conducted
with
thiazides
and
low
calcium
diet
which
is
indicated
only
in
the
intestinal
form
.
Primary
hyperoxaluria
is
treated
with
pyridoxine
and
may
require
in
the
severe
forms
simultaneous
renal
and
liver
transplantation
.
Enteric
hyperoxaluria
is
secondary
to
fatty
acids
malabsorption
and
requires
diet
,
oral
calcium
and
cholestiramine
.
Hyperuricosuria
is
caused
by
diet
endogenous
overproduction
,
mainly
due
to
enzymatic
defects
or
high
renal
excretion
of
uric
acid
.
Urine
alkalinization
with
K
or
K
and
Mg
citrate
can
prevent
stone
formation
even
in
idiopathic
uric
acid
nephrolithiasis
,
in
which
a
defect
of
urine
acidification
is
supposed
to
be
the
main
abnormality
,
and
in
hypocitraturic
patients
.
Cystinuria
is
a
rare
inherited
defect
with
an
intense
clinical
impact
.
It
can
be
classified
in
three
forms
and
urinary
stone
formation
is
the
role
.
Increased
solubility
and
conversion
of
cystine
in
a
more
soluble
form
are
the
main
goals
of
the
prophylaxis
which
includes
K
citrate
and
thiol
agents
administration
.
Tiopronin
is
preferred
to
D-
penicillamine
due
to
its
lower
side
effects
.