酸性鞘磷脂酶缺乏症诊治进展  

Progress in the diagnosis and treatment of acid sphingophospholipase deficiency

作　　者：张安安 刘晓琴 吴涛 Zhang Anan;Liu Xiaoqin;Wu Tao(Department of Hematology,the 940th Hospital of the Joint Logistics Support Force of the Chinese People’s Liberation Army,Lanzhou 730050,China)

机构地区：[1]中国人民解放军联勤保障部队第九四〇医院血液科,兰州730050

出　　处：《国际遗传学杂志》2024年第2期106-111,共6页International Journal of Genetics

摘　　要：酸性鞘磷脂酶缺乏症(acid sphingomyelinase deficiency,ASMD)通常被称为A型和B型尼曼匹克病,是一种罕见的进行性溶酶体储存障碍性疾病。ASMD是由编码溶酶体酶酸性鞘磷脂酶的SMPD1基因突变引起,与脂质代谢异常导致鞘磷脂在细胞内沉积有关。ASMD分为婴儿神经型、中间型和慢性内脏型。目前,国内外对ASMD的认识尚不足,本病缺乏有效的治疗方法。本文将对该病的诊治进展进行综述,加深医务人员对该病的认识。Acid sphingophospholipase deficiency(ASMD),commonly referred to as type A and type B Niemann’s disease,is a rare progressive lysosomal storage disorder.It is caused by a mutation in the SMPD1 gene encoding lysosomal enzyme acidic sphingophospholipase,and is related to the abnormal lipid metabolism leading to the deposition of sphingophospholipids in cells.ASMD is divided into infantile nervous type,intermediate type,and chronic visceral type.At present,the understanding of ASMD at home and abroad is still insufficient,and the disease lacks effective treatment methods.This article will provide a review of the progress in the diagnosis and treatment of this disease,in order to deepen the understanding of medical personnel about this disease.

关 键 词：酸性鞘磷脂酶缺乏症 SMPD1基因 GAUCHER病 酶替代疗法 造血干细胞移植 肝移植 

分 类 号：R589[医药卫生—内分泌]