How Do Physical Activity and Exercise Affect Fabry Disease? Exploring a New Opportunity

被引：2

作者：

Baciga, Federica ^{[1
,2
]}

Marchi, Giacomo ^{[3
]}

Caccia, Federica ^{[1
]}

Momente, Claudia ^{[1
]}

Esposito, Pasquale ^{[4
,5
]}

Aucella, Filippo ^{[6
]}

Vitturi, Nicola ^{[7
]}

Pederzoli, Laura ^{[8
]}

Shakkour, Meilad ^{[1
]}

Granata, Antonio ^{[9
]}

Zicarelli, Maria Teresa ^{[10
]}

Girelli, Domenico

Andreucci, Michele ^{[10
]}

Carraro, Gianni ^{[11
]}

Battaglia, Yuri ^{[1
,2
]}

机构：

[1] Univ Verona, Dept Med, Verona, Italy

[2] Pederzoli Hosp, Nephrol & Dialysis Unit, Garda, Italy

[3] Azienda Osped Univ Integrata Verona, Internal Med Unit & MetabERN Hlth Care Provider, Verona, Italy

[4] Univ Genoa, Dept Internal Med & Med Specialties DiMI, Nephrol Dialysis & Transplantat, Genoa, Italy

[5] IRCCS Osped Policlin San Martino, Nephrol Clin, Genoa, Italy

[6] Casa Sollievo Sofferenza, Nephrol & Dialysis Unit, San Giovanni Rotondo, Italy

[7] Univ Hosp, Dept Med DIMED, Div Metab Dis, Padua, Italy

[8] Pederzoli Hosp, Cardiol Unit, Peschiera Del Garda, Italy

[9] Cannizzaro Emergency Hosp, Nephrol & Dialysis Unit, Catania, Italy

[10] Magna Graecia Univ Catanzaro, Dept Hlth Sci, Chair Nephrol, Catanzaro, Italy

[11] Univ Padua, Dept Med, Nephrol Dialysis & Transplantat Unit, Padua, Italy

来源：

KIDNEY & BLOOD PRESSURE RESEARCH | 2024年 / 49卷 / 01期

关键词：

Fabry disease; Physical exercise; Enzyme replacement therapy; Migalastat; Lysosomal disease; Skeletal muscle; Cardiac; Neurologic; Anemia; Depression; Psychosocial condition; ENZYME REPLACEMENT THERAPY; CLINICAL-MANIFESTATIONS; AGALSIDASE-BETA; IRON-DEFICIENCY; INVOLVEMENT; ANEMIA; MANAGEMENT; DIAGNOSIS; GUIDELINES; RECOMMENDATIONS;

D O I：

10.1159/000540236

中图分类号：

Q4 [生理学];

学科分类号：

071003 ;

摘要：

Background: Fabry disease (FD) is a multisystem, monogenic, X-linked storage disorder caused by mutations in the GLA gene, resulting in reduced alfa-galactosidase A enzyme activity. This effect leads to the accumulation of glycosphingolipids, particularly globotriaosylceramide, in various tissues, including the heart, kidney, vasculature, smooth muscle, and peripheral nervous system. Hemizygous males are usually more severely affected than females, in whom random inactivation of an X chromosome may lead to variable phenotype. Summary: Among the manifestations of FD, exercise intolerance is commonly diagnosed but often underestimated, even though it significantly limits quality of life, especially in young patients. This review primarily discusses the various pathophysiological mechanisms involved in exercise intolerance in FD patients, such as altered muscle composition, compromised cardiopulmonary framework, and peripheral neuropathy. Secondarily, it explores the potential effect of available therapy, including enzyme replacement therapy and chaperone therapy (migalastat), in reducing exercise intolerance while considering the potential impact of physical activity and exercise training as adjunctive treatments. Conclusion: Exercise intolerance has a major impact on the well-being of people with FD. Exercise training can play an important role in addition to drug therapy. (c) 2024 The Author(s).Published by S. Karger AG, Basel

引用

页码：707 / 725

页数：19