Orvosi hetilap · 2010
[Fabry disease--diagnostic guideline].
Аннотация на английскомСтатьяКлинические рекомендацииОбзорНазвание и аннотация: Перевод пока не подготовлен
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Constantin Tamás, Rákóczi Eva, Ponyi Andrea, Ambrus Csaba, Kádár Krisztina, Vastagh Ildikó, Dajnoki Angéla, Tóth Beáta, Bokrétás Gergely, Müller Veronika, Katona Mária, Csikós Márta, Fiedler Orsolya, Széchey Rita, Varga Edit, Rudas Gábor, Kertész Attila, Molnár Sándor, Kárpáti Sarolta, Nagy Viktor, Magyar Pál, Mahdi Mohamed, Németh Krisztina, Bereczki Dániel, Garami Miklós, Erdos Melinda, Maródi László, Fekete György, Fabry Disease Work Group
Аннотация
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.