[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.
Semmelweis Egyetem, Altalános Orvostudományi Kar II. Gyermekgyógyászati Klinika, Budapest, Tûzoltó u, 7-9, 1094.
Tamás
T
Constantin
Eva
E
Rákóczi
Andrea
A
Ponyi
Csaba
C
Ambrus
Krisztina
K
Kádár
Ildikó
I
Vastagh
Angéla
A
Dajnoki
Beáta
B
Tóth
Gergely
G
Bokrétás
Veronika
V
Müller
Mária
M
Katona
Márta
M
Csikós
Orsolya
O
Fiedler
Rita
R
Széchey
Edit
E
Varga
Gábor
G
Rudas
Attila
A
Kertész
Sándor
S
Molnár
Sarolta
S
Kárpáti
Viktor
V
Nagy
Pál
P
Magyar
Mohamed
M
Mahdi
Krisztina
K
Németh
Dániel
D
Bereczki
Miklós
M
Garami
Melinda
M
Erdos
László
L
Maródi
György
G
Fekete
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