戈谢病骨损害发病机制及诊治的研究进展

Research Progress on Pathogenesis, Diagnosis and Treatment of Bone Damage in Gaucher Disease

摘要: 戈谢病是一种溶酶体贮积症，属于常染色体隐性遗传病。该病起病原因是葡萄糖脑苷脂酶基因发生突变，导致溶酶体内葡萄糖脑苷脂酶缺乏，葡萄糖脑苷脂无法被正常水解，在肝脏、脾脏、骨骼、脑组织的巨噬细胞溶酶体中贮积，形成戈谢细胞，戈谢细胞浸润组织器官进而引发肝脏肿大、脾脏肿大、骨骼损害、癫痫等。戈谢病患儿骨损害发生率高，严重影响患儿的生长发育及生存质量，因此，本文将对戈谢病骨损害的机制、临床表现、评估以及防治的研究进展作一综述，以期提高对戈谢病骨损害的认识。

Abstract: Gaucher disease is a lysosomal storage disease, which belongs to autosomal recessive disease. The onset of the disease is due to the mutation of glucocerebrosidase gene, resulting in the lack of glucocerebrosidase in lysosomes. Glucocerebroside can not be hydrolyzed normally and is stored in macrophage lysosomes of liver, spleen, bone and brain to form Gaucher cells. Gaucher cells infiltrate tissues and organs, resulting in hepatomegalyt, splenomegaly, bone damage, epilepsy, etc. The incidence of bone damage in children with gaucher disease is high, which seriously affects the growth, development and quality of life of children. Therefore, this paper will review the research progress of the mechanism, clinical manifestation, evaluation, prevention and treatment of bone damage in gaucher disease, in order to improve the understanding of bone damage in gaucher disease.