Pediatric Unit, Department of Science of Health, University Magna Graecia of Catanzaro, Catanzaro, Italy.
Department of Human Pathology in Adult and Developmental Age "Gaetano Barresi", Unit of Pediatric Nephrology and Rheumatology with Dialysis, University of Messina, "G. Martino" Policlinic, Italy.
J Biol Regul Homeost Agents. 2020 Jul-Aug;34(4 Suppl. 2):107-119. SPECIAL ISSUE: FOCUS ON PEDIATRIC CARDIOLOGY.
Lysosomal storage diseases (LSDs) include a heterogeneous group of rare, inborn, metabolic diseases characterized by deficiency of lysosomal enzymes or of other proteins involved in lysosomal function, leading to multi organ system substrates accumulation, with consequent multi systemic clinical presentation. Cardiac disease is particularly important in some group of LSDs as glycogen storage diseases (Pompe), mucopolysaccharidoses and in glycosphingolipidoses (Anderson-Fabry disease and less frequently Gaucher disease). Various cardiac manifestations may be observed including hypertrophic and dilated cardiomyopathy, coronary artery disease and valvular disease. The availability of enzyme replacement therapy (ERT) has changed the natural history of some LSDs such as Pompe disease, thanks to the significant effects on cardiological involvement. In other LSDs such as MPSs or Fabry disease, ERT has been shown to stabilize or slow the progression of heart damage. This imposes the need for a timely diagnosis that allows a rapid onset of ERT.
溶酶体贮积症（LSDs）包括一组异质性罕见的先天性代谢疾病，其特征为溶酶体酶或其他参与溶酶体功能的蛋白缺乏，导致多器官系统底物积累，进而引起多系统临床表现。在某些溶酶体贮积症（如庞贝病）、黏多糖贮积症和糖脂贮积症（安德森-法布里病，较少见的戈谢病）中，心脏疾病尤为重要。可能观察到各种心脏表现，包括肥厚型和扩张型心肌病、冠状动脉疾病和瓣膜疾病。酶替代疗法（ERT）的出现改变了某些 LSD 的自然病史，如庞贝病，ERT 对心脏受累具有显著疗效。在其他 LSD 中，如 MPS 或 Fabry 病，ERT 已被证明可稳定或减缓心脏损伤的进展。这就需要及时诊断，以便迅速开始 ERT。
