论文部分内容阅读
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 improve the understanding of MPS type Ⅱ and reduce the occurrence of misdiagnosis. Methods The clinical features of one MPS type Ⅱ patient diagnosed clinically were analyzed and analyzed with related literatures. Results The clinical manifestations of MPS Ⅱ type were chronic and progressive multiple organ system involvement, multiple bone dysplasia and multiple joint activities. Diagnosis and clinical classification required by the enzyme activity test. Conclusions There is no cure for MPS Ⅱ type at present, mainly for symptomatic treatment, and those with known gene mutations in family can be guided by prenatal diagnosis.