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[Fabry disease--guidelines for diagnosis and management of adult patients].
[fabry disease]
Early
diagnosis
and
management
of
patients
with
Fabry
disease
(
FD
)
requires
a
multidisciplinary
approach
of
several
different
experts
.
The
aim
of
this
document
is
to
provide
health
care
professionals
with
guidelines
for
management
of
adult
patients
with
Fabry
disease
.
These
guidelines
were
produced
by
the
staff
of
the
Division
of
Metabolic
Diseases
,
Department
of
Internal
Medicine
,
University
Hospital
Center
Zagreb
,
which
is
the
Referral
Expert
Center
for
Rare
and
Metabolic
Diseases
of
the
Ministry
of
Health
,
Republic
of
Croatia
.
The
first
guidelines
ever
published
in
Croatia
concerning
a
rare
metabolic
disease
are
presented
.
This
document
provides
a
short
summary
on
Fabry
disease
,
how
to
diagnose
Fabry
disease
,
management
of
patients
with
this
disease
,
follow-up
of
the
patients
,
and
gives
recommendations
on
therapy
and
genetic
testing
.
Diseases
Validation
Diseases presenting
"early diagnosis"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
alexander disease
allergic bronchopulmonary aspergillosis
aromatase deficiency
carcinoma of the gallbladder
cholangiocarcinoma
classical phenylketonuria
coats disease
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
cystinuria
dentin dysplasia
dentinogenesis imperfecta
dracunculiasis
erdheim-chester disease
erythropoietic protoporphyria
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
hirschsprung disease
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
kabuki syndrome
kallmann syndrome
kindler syndrome
krabbe disease
locked-in syndrome
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
oral submucous fibrosis
papillon-lefèvre syndrome
phenylketonuria
primary effusion lymphoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
thoracic outlet syndrome
triple a syndrome
typhoid
von hippel-lindau disease
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
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