黏多糖贮积症Ⅰ型的诊治进展  

Diagnosis and treatment trends in mucopolysaccharidosis Ⅰ

作　　者：戴阳丽[1] 傅君芬[1] DAI Yang-li;FU Jun-fen(Department of Endocrinology,Children's Hospital Zhejiang University School of Medicine,Hangzhou 310052,China)

机构地区：[1]浙江大学医学院附属儿童医院内分泌科,浙江杭州310052

出　　处：《中国实用儿科杂志》2024年第11期810-815,共6页Chinese Journal of Practical Pediatrics

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。Mucopolysaccharidosis type Ⅰ is a rare and life-threating autosomal recessive disease caused by the deficiency ofα-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 ofα-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 

分 类 号：R72[医药卫生—儿科]