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溶酶体是一种细胞器,其内含有60多种酸性水解酶,这些酶发生数量或功能异常时就会导致特定生物分子不能被正常降解,从而贮积在组织细胞内,引发一系列疾病统称为溶酶体贮积症(lysosomal storage disease,LSD)[1]。LSD的心脏受累比较常见,对患者预后有重要影响,本文将对几种主要累及心脏的LSD的临床特点进行总结,提高对这些疾病的认识。一、糖原贮积病(glycogen storage disease,GSD)Ⅱa型又称Pompe病,是一种常染色体隐性遗传病,系溶酶体内参与葡萄糖降解的α-1,4葡萄糖苷酶(acid-α-D-glucosidase,GAA),即酸性麦芽糖酶缺乏,导致糖原及麦芽糖贮积在细胞胞浆和溶酶体内,全身系统均可受累,其中骨骼肌、心肌和肝脏最容易被累及[2]。
Lysosomes are an organelle containing more than 60 kinds of acid hydrolases. The quantity or dysfunction of these enzymes can cause the specific biomolecules to not be degraded normally, thus accumulating in the tissue cells and triggering a series of diseases collectively Is lysosomal storage disease (LSD) [1]. The heart involvement of LSD is more common and has a significant effect on the prognosis of patients. In this article, we summarize the clinical features of several major LSD-involved hearts and raise awareness of these disorders. First, glycogen storage disease (glycogen storage disease, GSD) Type IIa also known as Pompe disease, is an autosomal recessive disease, lysosomal lysozyme in vivo glucose-involved in the degradation of alpha-1,4 glucosidase (acid- α-D-glucosidase, GAA), namely, acid maltase deficiency, resulting in the accumulation of glycogen and maltose in the cytoplasm and lysosomes of the body, the systemic system may be involved, of which skeletal muscle, myocardium and liver most likely to be involved [2 ].