摘要
目的提高对粘多糖贮积症(MPS)Ⅱ型的认识,减少误诊的发生。方法分析临床确诊的1例MPS Ⅱ型患儿的临床特点,并结合相关文献进行分析。结果 MPS Ⅱ型临床表现为慢性进行性多器官系统受累、多发性骨发育不良、多关节活动受限等。确诊及临床分型需通过酶活性检测。结论 MPS Ⅱ型目前暂无根治办法,主要是对症治疗,家系基因突变已知者可通过产前诊断进行婚育指导。
Objective： To elevate recognition and to decrease misdiagnosed of the mucopolysaccharidosis （MPS） Ⅱ. Methods： To review the clinical history of a case MPS Ⅱ and to analyze clinical characteristic of MPS Ⅱ combining with pertinent literature. Results： The clinical manifestation of MPS Ⅱ was chronic and progressive. MPS Ⅱ is characterized by multi - organ damage, multiple bone dysplasias and multi joint motion limitation of activity. The final diagnosis and clinical typing depend on enzymic activity. Conclusions Although not curative, MPS Ⅱ can symptomatic treatment now. The cases which family genetic mutation has known can get connubial and generational guide.
出处
《中国优生与遗传杂志》
2013年第1期110-110,63,共2页
Chinese Journal of Birth Health & Heredity
关键词
粘多糖贮积症Ⅱ型
诊断
治疗
MucopolysaccharidosisⅡ
Diagnose
Treatment
