黏多糖贮积症Ⅰ型的研究现状及进展

Current status and progress of mucopolysaccharidosis typeⅠ

黏多糖贮积症Ⅰ型(mucopolysaccharidosis typeⅠ,MPSⅠ)是一种罕见的常染色体隐性遗传代谢性疾病,临床表现复杂,常累及多个器官,疾病负担重,普遍存在确诊率低、诊断延迟等情况。酶替代疗法、造血干细胞移植是MPSⅠ治疗的主要手段,大量研究数据显示2种疗法均可使MPSⅠ患者获益。就目前而言,临床上对MPSⅠ的认识仍然不足,相关研究也较少。故本文将围绕MPSⅠ流行病学特征、基因突变与临床表型、临床表现、诊断及治疗作一综述,旨在加深临床医师对该类疾病的认识,促进MPSⅠ患者早诊断、早治疗、早获益。

Mucopolysaccharidosis type I(MPSⅠ),a rare autosomal recessive metabolic disease with complex clinical manifestations,often involves multiple organs and results in a heavy disease burden,for which low diagnosis rate and delayed diagnosis are common.Enzyme replacement therapy and hematopoietic stem cell transplantation are the main treatments for MPSⅠ,and MPSⅠpatients can benefit from the two therapies as shown by a large amount of research data.There is a lack of awareness of MPSⅠand little research has been done on that at present in China.This article will review the epidemiological characteristics,gene mutations and clinical phenotypes,clinical manifestations,diagnosis and treatment of MPSⅠfor understanding the diseases comprehensively as well as promoting early diagnosis and treatment,and earlier treatment may be beneficial to patients.