中国实用儿科杂志2024，Vol.39Issue(11)：810-815,6.DOI:10.19538/j.ek2024110602
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
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分类
医药卫生引用本文复制引用
戴阳丽,傅君芬..黏多糖贮积症Ⅰ型的诊治进展[J].中国实用儿科杂志,2024,39(11):810-815,6.
