尼曼-匹克病C型诊治进展

Advances in diagnosis and treatment of Niemann-Pick disease type C

尼曼-匹克病C型(Niemann-Pick disease type C,NPC)是由NPC1或NPC2基因突变引起的一种常染色体隐性遗传性疾病,发病率约为(1~9)/10万。NPC1/NPC2基因突变导致细胞胆固醇转运障碍,游离的胆固醇和其他脂质在溶酶体内贮积而致病。NPC发病年龄和临床表现差异很大,其中神经系统开始受累的年龄和临床表现决定了疾病的严重程度和患者的预后。生物标志物筛查、皮肤活检成纤维细胞Filipin染色、基因检测有助于NPC诊断。NPC的治疗主要以支持治疗为主,使用美格鲁特可延缓神经系统症状进展。该文通过对NPC的流行病学、发病机制、临床表现、诊断、鉴别诊断、治疗、预后等研究进展进行综述,希望有助于提高临床医生对NPC的认识和诊治水平。

Niemann-Pick disease type C(NPC)is an autosomal recessive genetic disorder caused by mutations in either the NPC1 or NPC2 gene.NPC has an estimated incidence of 1~9:100000.Mutations in NPC1/NPC2 genes lead to impaired cellular cholesterol trafficking and result in the accumulation of cholesterol and other lipids in the lysosomes.There are significant differences in the age of onset and clinical manifestations of NPC.The age of onset and clinical manifestations of nervous system involvement determine the severity of the disease and the patient's prognosis.Biomarker screening,genetic testing,and Filipin staining of skin fibroblasts help to diagnose NPC.The treatment of NPC mainly focuses on supportive therapy.Miglustat may delay the progression of neurological symptoms.By summarizing the research progress of NPC in epidemiology,pathogenesis,clinical manifestations,diagnosis,differential diagnosis,treatment,prognosis,this review will help clinicians improve their understanding,diagnosis and treatment of NPC.