De Marco Oriana, Gambardella Jessica, Bianco Antonio, Fiordelisi Antonella, Cerasuolo Federica Andrea, Buonaiuto Antonietta, Avvisato Roberta, Capuano Ivana, Amicone Maria, Di Risi Teodolinda, Riccio Eleonora, Spinelli Letizia, Pisani Antonio, Iaccarino Guido, Sorriento Daniela
Department of Public Health, Federico II University, Naples, Italy.
Centro Interdipartimentale di Ricerca in Ipertensione Arteriosa e Patologie Associate, Federico II University of Naples, Naples, Italy.
Front Cardiovasc Med. 2024 May 2;11:1396996. doi: 10.3389/fcvm.2024.1396996. eCollection 2024.
Fabry disease (FD), also known as Anderson-Fabry disease, is a hereditary disorder of glycosphingolipid metabolism, caused by a deficiency of the lysosomal alpha-galactosidase A enzyme. This causes a progressive accumulation of glycosphingolipids in tissues and organs which represents the main pathogenetic mechanism of FD. The disease is progressive and multisystemic and is characterized by early symptoms and late complications (renal, cardiac and neurological dysfunction). Fatigue and exercise intolerance are early common symptoms in FD patients but the specific causes are still to be defined. In this narrative review, we deal with the contribution of cardiac and pulmonary dysfunctions in determining fatigue and exercise intolerance in FD patients.
法布里病（FD），也称为安德森 - 法布里病，是一种鞘糖脂代谢的遗传性疾病，由溶酶体α - 半乳糖苷酶A酶缺乏引起。这导致鞘糖脂在组织和器官中进行性蓄积，这是法布里病的主要发病机制。该疾病是进行性和多系统的，其特征为早期症状和晚期并发症（肾脏、心脏和神经功能障碍）。疲劳和运动不耐受是法布里病患者早期常见的症状，但具体原因仍有待确定。在这篇叙述性综述中，我们探讨心脏和肺功能障碍在法布里病患者疲劳和运动不耐受的发生中所起的作用。
