title: [Management of Fabry disease].
abstract: 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.
authors.affiliation: Semmelweis Egyetem, Altalános Orvostudományi Kar II. Gyermekgyógyászati Klinika Budapest Tuzoltó u. 7-9. 1094.
authors.forename: Tamás
authors.initials: T
authors.lastname: Constantin
authors.forename: Annamária
authors.initials: A
authors.lastname: Székely
authors.forename: Andrea
authors.initials: A
authors.lastname: Ponyi
authors.forename: Vera
authors.initials: V
authors.lastname: Gulácsy
authors.forename: Csaba
authors.initials: C
authors.lastname: Ambrus
authors.forename: Krisztina
authors.initials: K
authors.lastname: Kádár
authors.forename: Ildikó
authors.initials: I
authors.lastname: Vastagh
authors.forename: Angéla
authors.initials: A
authors.lastname: Dajnoki
authors.forename: Beáta
authors.initials: B
authors.lastname: Tóth
authors.forename: Gergely
authors.initials: G
authors.lastname: Bokrétás
authors.forename: Veronika
authors.initials: V
authors.lastname: Müller
authors.forename: Mária
authors.initials: M
authors.lastname: Katona
authors.forename: Márta
authors.initials: M
authors.lastname: Medvecz
authors.forename: Orsolya
authors.initials: O
authors.lastname: Fiedler
authors.forename: Rita
authors.initials: R
authors.lastname: Széchey
authors.forename: Edit
authors.initials: E
authors.lastname: Varga
authors.forename: Gábor
authors.initials: G
authors.lastname: Rudas
authors.forename: Attila
authors.initials: A
authors.lastname: Kertész
authors.forename: Sándor
authors.initials: S
authors.lastname: Molnár
authors.forename: Sarolta
authors.initials: S
authors.lastname: Kárpáti
authors.forename: Viktor
authors.initials: V
authors.lastname: Nagy
authors.forename: Pál
authors.initials: P
authors.lastname: Magyar
authors.forename: Mohamed
authors.initials: M
authors.lastname: Mahdi
authors.forename: Eva
authors.initials: E
authors.lastname: Rákóczi
authors.forename: Krisztina
authors.initials: K
authors.lastname: Németh
authors.forename: Dániel
authors.initials: D
authors.lastname: Bereczki
authors.forename: Miklós
authors.initials: M
authors.lastname: Garami
authors.forename: Melinda
authors.initials: M
authors.lastname: Erdos
authors.forename: László
authors.initials: L
authors.lastname: Maródi
authors.forename: György
authors.initials: G
authors.lastname: Fekete
mesh_terms: 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*
chemical_list: D000519:alpha-Galactosidase