Fabry disease--diagnostic guideline

• Published in: Orvosi hetilap Vol. 151; no. 7; p. 243
• Main Authors: 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
• Format: Journal Article
• Language: Hungarian
• Published: Hungary 14-02-2010
• Subjects: alpha-Galactosidase - administration & dosage; alpha-Galactosidase - blood; alpha-Galactosidase - genetics; alpha-Galactosidase - metabolism; Cardiovascular System - metabolism; Cardiovascular System - pathology; Chromatography, High Pressure Liquid; Diagnosis, Differential; Fabry Disease - complications; Fabry Disease - diagnosis; Fabry Disease - drug therapy; Fabry Disease - enzymology; Fabry Disease - genetics; Female; Gastrointestinal Tract; Humans; Kidney - metabolism; Kidney - pathology; Lung - physiopathology; Male; Mass Spectrometry; Nervous System - metabolism; Nervous System - pathology; Skin - metabolism; Skin - pathology; Trihexosylceramides - blood; Trihexosylceramides - metabolism; Vision, Ocular
• DOI: 10.1556/OH.2010.28795
• ISSN: 0030-6002

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.