黏多糖贮积症Ⅰ型的诊治进展
Diagnosis and treatment trends in mucopolysaccharidosis Ⅰ
戴阳丽 1傅君芬1
作者信息
- 1. 浙江大学医学院附属儿童医院内分泌科,浙江 杭州 310052
- 折叠
摘要
黏多糖贮积症Ⅰ型是一种由于溶酶体α-L-艾杜糖苷酶缺乏或活性降低,导致硫酸乙酰肝素和硫酸皮肤素在体内蓄积,而造成多器官进行性损害的致死性罕见常染色体隐性遗传病.黏多糖贮积症Ⅰ型的诊断需要结合临床表现、黏多糖测定、酶活性检测及基因检测进行.新生儿筛查对于黏多糖贮积症Ⅰ型的早期识别至关重要.目前的治疗方案主要是异基因造血干细胞移植、酶替代治疗及对症治疗,基因治疗仍处于研究阶段.
Abstract
Mucopolysaccharidosis type Ⅰ is a rare and life-threating autosomal recessive disease caused by the deficiency of α-L-iduronidase,resulting in the accumulation of heparan sulfate and dermatan sulfate in the body,leading to progressive multiple organs dysfunction.The diagnosis of MPS type Ⅰ is based on the quantification of α-l-iduronidase coupled with clinical manifestations,glycosaminoglycan analysis and gene sequencing.Newborn screening is now allowing the early identification of MPS Ⅰ patients.The current treatment options are mainly allogeneic hematopoietic stem cell transplantation,enzyme replacement therapy and symptomatic treatment.Gene therapy is under development.
关键词
黏多糖贮积症Ⅰ型/诊断/治疗Key words
mucopolysaccharidosis type Ⅰ/diagnosis/treatment引用本文复制引用
出版年
2024
国家科技期刊平台
NSTL
万方数据