Long-Term Effects of Enzyme Replacement Therapy for Anderson-Fabry Disease
| Autor: | Takuya Mizukami, Naoko Ikeda, Yoshitaka Iso, Ayaka Nogi, Hiroshi Suzuki, Miki Tsujiuchi, Mio Ebato, Hideyuki Maezawa |
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| Rok vydání: | 2019 |
| Předmět: |
Proband
congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty business.industry nutritional and metabolic diseases Heterozygote advantage General Medicine Disease Enzyme replacement therapy 030204 cardiovascular system & hematology Left ventricular hypertrophy medicine.disease Gastroenterology 03 medical and health sciences Anderson-Fabry Disease 0302 clinical medicine Internal medicine Genotype medicine Lysosomal storage disease 030212 general & internal medicine Cardiology and Cardiovascular Medicine business |
| Zdroj: | International Heart Journal. 60:208-214 |
| ISSN: | 1349-3299 1349-2365 |
| DOI: | 10.1536/ihj.17-688 |
| Popis: | Anderson-Fabry disease is a rare X-linked lysosomal storage disease caused by α-galactosidase A (α-GalA) gene variants and characterized by a large genotypic and phenotypic spectrum. Enzyme replacement therapy (ERT) using recombinant α-GalA has been approved for > 10 years as a specific therapy for the disease. However, the long-term clinical efficacy for cardiac manifestations has been equivocal because it depends on several factors such as genotype, sex, age, and disease severity at the initiation of ERT. We report the differences in the clinical effects of ERT continued for > 10 years in three patients with the same genotype. Left ventricular hypertrophy and myocardial dysfunction progressed in the heterozygote proband even under ERT, although disease progression was prevented in two sons of Case 1. |
| Databáze: | OpenAIRE |
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