[Fabry disease--diagnostic guideline].
Fabry disease is a rare, X-linked lysosomal storage disorder that leads to accumulation of globotriaosylceramide in different tissues of the body. The disease is progressive, first symptoms usually present in childhood. Consequencies of the diseases are disability and premature death. The disease in females could be as severe as in males although women may also be asymptomatic. The possibility of enzyme replacement therapy has made it necessary to elaborate a comprehensive guideline for the diagnosis and treatment follow-up. The guideline was established by a Hungarian multi-disciplinary working group, consisting of physicians who are involved in health care of Fabry patients. Previous clinical studies, published materials, and recently established international treatment guidelines were reviewed by the group.
Constantin
Tamás
T
Semmelweis Egyetem, Altalános Orvostudományi Kar II. Gyermekgyógyászati Klinika, Budapest, Tûzoltó u, 7-9, 1094.
Rákóczi
Eva
E
Ponyi
Andrea
A
Ambrus
Csaba
C
Kádár
Krisztina
K
Vastagh
Ildikó
I
Dajnoki
Angéla
A
Tóth
Beáta
B
Bokrétás
Gergely
G
Müller
Veronika
V
Katona
Mária
M
Csikós
Márta
M
Fiedler
Orsolya
O
Széchey
Rita
R
Varga
Edit
E
Rudas
Gábor
G
Kertész
Attila
A
Molnár
Sándor
S
Kárpáti
Sarolta
S
Nagy
Viktor
V
Magyar
Pál
P
Mahdi
Mohamed
M
Németh
Krisztina
K
Bereczki
Dániel
D
Garami
Miklós
M
Erdos
Melinda
M
Maródi
László
L
Fekete
György
G
D002319:Cardiovascular System / Q000378:metabolism / Q000473:pathology; D002851:Chromatography, High Pressure Liquid; D003937:Diagnosis, Differential; D000795:Fabry Disease / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy / Q000201:enzymology / Q000235:genetics; D005260:Female; D041981:Gastrointestinal Tract; D006801:Humans; D007668:Kidney / Q000378:metabolism / Q000473:pathology; D008168:Lung / Q000503:physiopathology; D008297:Male; D013058:Mass Spectrometry; D009420:Nervous System / Q000378:metabolism / Q000473:pathology; D012867:Skin / Q000378:metabolism / Q000473:pathology; D014281:Trihexosylceramides / Q000097:blood / Q000378:metabolism; D014785:Vision, Ocular; D000519:alpha-Galactosidase / Q000008:administration & dosage* / Q000097:blood / Q000235:genetics / Q000378:metabolism*
D014281:Trihexosylceramides; C018549:globotriaosylceramide; D000519:alpha-Galactosidase