酸性鞘磷脂酶缺乏症诊断进展  

Advances in the diagnosis of acid sphingomyelinase deficiency

作　　者：钱岚 刘文慧 吴涛 白海 Qian Lan;Liu Wenhui;Wu Tao;Bai Hai(Department of Hematology,the 940th Hospital of Joint Logistics Support Force of 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：《中国医师杂志》2022年第9期1437-1440,共4页Journal of Chinese Physician

基　　金：甘肃省创新基地和人才计划(甘肃省白血病临床医学研究中心)资助(21JR7RA015)。

摘　　要：酸性鞘磷脂酶缺乏症(ASMD)又称为A型及B型尼曼匹克病,是一组由于鞘磷脂磷酸二酯酶-1(SMPD1)基因突变使酸性鞘磷脂酶活性下降甚至缺失,从而导致鞘磷脂异常沉积的溶酶体内脂质贮积病。本病可通过骨髓穿刺、病理活检、酸性鞘磷脂酶活性测定及SMPD1基因检测等检查手段确诊。近年来随着分子诊断技术的快速进展,对ASMD分子遗传学检测手段、生物标志物及酸性鞘磷脂酶活性测定等实验室诊断方面有了新的认识。本文将对ASMD的诊断进展作一综述,旨在减少该病误诊漏诊,提高临床医生对该病的认识。Acid sphingomyelinase deficiency(ASMD),also known as type A and B Niemann-Pick disease,is a group of intra-lysosomal lipid storage diseases caused by mutations in the SMPD1 gene that decrease acid sphingomyelinase activity or even cause deletion,resulting in abnormal deposition of sphingolipids.This disease can be diagnosed by bone marrow aspiration,pathological biopsy,acid sphingomyelinase activity measurement and SMPD1 gene testing.In recent years,with the rapid progress of molecular diagnostic techniques,new insights have been gained in the laboratory diagnosis of ASMD by means of molecular genetic tests,biomarkers and acid sphingomyelinase activity assay.This article will review the diagnostic progress of ASMD,aiming to reduce the misdiagnosis and leakage of the disease and improve the clinicians′understanding of the disease.

关 键 词：酸性鞘磷脂酶缺乏症 尼曼-皮克病 鞘磷脂磷酸二酯酶1 

分 类 号：R596[医药卫生—内科学]