[Management of Fabry disease].
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 and the first symptoms usually present in childhood. Consequences of the disease are disability and premature death. The disease in females could be as severe as in males although women may 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 has been summarized by a Hungarian multi-disciplinary working group consisting of physicians who are involved in diagnosis and care of Fabry patients. Previous clinical studies, published articles, and recently established international treatment guidelines were reviewed by the group.
Constantin
Tamás
T
Semmelweis Egyetem, Altalános Orvostudományi Kar II. Gyermekgyógyászati Klinika Budapest Tuzoltó u. 7-9. 1094.
Székely
Annamária
A
Ponyi
Andrea
A
Gulácsy
Vera
V
Ambrus
Csaba
C
Kádár
Krisztina
K
Vastagh
Ildikó
I
Dajnoki
Angéla
A
Tóth
Beáta
B
Bokrétás
Gergely
G
Müller
Veronika
V
Katona
Mária
M
Medvecz
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
Rákóczi
Eva
E
Németh
Krisztina
K
Bereczki
Dániel
D
Garami
Miklós
M
Erdos
Melinda
M
Maródi
László
L
Fekete
György
G
D002986:Clinical Trials as Topic; D056947:Enzyme Replacement Therapy; D000795:Fabry Disease / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy / Q000201:enzymology / Q000503:physiopathology; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D016896:Treatment Outcome; D000519:alpha-Galactosidase / Q000235:genetics / Q000627:therapeutic use*
D000519:alpha-Galactosidase