What is confirmed in the treatment of Fabryʼs disease?

被引：0
作者：
Malte Lenders [1 ]
Eva Brand [1 ]
机构：
[1] Allgemeine Innere Medizin D sowie Nieren- und Hochdruckkrankheiten und Rheumatologie, Interdisziplinäres Fabry Zentrum (IFAZ), Universitätsklinikum Münster, Albert-Schweitzer-Campus 1, Münster
来源：
Die Innere Medizin | 2024年 / 65卷 / 12期
关键词：
Enzyme replacement therapy; Gene therapy; Lysosomal storage diseases; Molecular chaperones; Substrate reduction therapy;
D O I：
10.1007/s00108-024-01741-z
中图分类号：
学科分类号：
摘要：
Fabryʼs disease is a rare X chromosome-linked inherited lysosomal storage disease characterized by insufficient metabolism of the substrate globotriaosylceramide (Gb3) due to reduced alpha-galactosidase A (AGAL) activity. Lysosomal Gb3 accumulation causes a multisystemic disease which, if untreated, reduces the life expectancy in females and males by around 10 and 20 years, respectively, due to progressive renal dysfunction, hypertrophic cardiomyopathy, cardiac arrhythmia and early occurrence of cerebral infarction. The diagnosis is confirmed by determining the reduced AGAL activity in leukocytes in males and molecular genetic detection of a -mutation causing the disease in females. The treatment comprises enzyme replacement therapy (ERT), agalsidase alfa, 0.2 mg/kg body weight (BW), agalsidase beta 1.0 mg/kg BW or pegunigalsidase alfa 1.0 mg/kg BW every 2 weeks i.v. or oral chaperone therapy (one capsule of migalastat 123 mg every other day) in the presence of amenable mutations. This article summarizes the data on the treatment of Fabryʼs disease and on complications in practice. The current guideline recommendations are addressed and new study results that could expand the therapeutic repertoire in the future are discussed. © The Author(s), under exclusive licence to Springer Medizin Verlag GmbH, ein Teil von Springer Nature 2024.
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页码：1188 / 1198
页数：10
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