目的 从实验室代谢指标探讨黏多糖贮积症Ⅱ型患儿造血干细胞移植治疗后的疗效。方法 回顾分析23例 男性黏多糖贮积症Ⅱ型患儿造血干细胞移植治疗年龄及治疗前后外周血白细胞艾杜糖醛酸-2-硫酸酯酶（IDS）活性、尿 黏多糖（GAG）定性和电泳结果变化。结果 23例男性患儿，移植中位年龄为4.5岁（1 . 75 ~ 12岁）。移植前23例患儿IDS 活性均显著低于正常值；移植后100天，90 . 9 %（20/22）患儿IDS活性达到正常值；至移植后2年，100%（9/9）患儿IDS 活性达到正常值；移植2年后，患儿IDS活性稳定于正常值范围。移植后2年内患儿IDS活性数值变化差异无统计学意义 （P>0 . 05）。移植后100天即有53 . 3 %（8 / 15）患儿尿GAG含量较移植前下降。截止到资料收集时间，75 . 0 %（15 /20）患儿 移植后尿GAG含量较移植前下降，但仅2例（10. 0%，2 /20）患儿移植后尿GAG完全转阴。结论 造血干细胞移植治疗可 恢复黏多糖贮积症Ⅱ型患儿外周血白细胞IDS活性至正常值，但对于降低黏多糖贮积症Ⅱ型患儿尿GAG含量作用有限， 其可在一定程度上降低尿GAG含量但大多未至正常水平。

Objective To explore the efficacy of hematopoietic stem cell transplantation (HSCT) in the treatment of mucopolysaccharidosis type Ⅱ (MPS Ⅱ) by laboratory metabolic indices. Methods The age of hematopoietic stem cell transplantation, the activity of iduronate- 2 -sulfatase (IDS) in peripheral blood leukocytes, the qualitative and electrophoretic results of urinary glycosaminoglycan (GAG) before and after treatment were retrospectively analyzed among 23 MPS Ⅱ children. Results A total of 23 boys were included, with a median transplant age of 4 . 5 years ( 1 . 75 - 12 years). The IDS activity of 23 children before transplantation was significantly lower than the normal value. One hundred days after transplantation, 90 . 9% ( 20 /22 ) of the children had normal IDS activity. By 2 years after transplantation, 100 % ( 9 /9 ) of the children had normal IDS activity. Two years after transplantation, activity was stable in the normal range. There was no statistical difference in IDS activity values of the MPS Ⅱ patients after transplantation in 2 years (P> 0 . 05 ). The content of urinary GAG decreased in 53 . 3 % ( 8 /15 ) of the patients 100 days after transplantation. By the time of data collection, 75 . 0 % ( 15/20 ) of children had decreased urine GAG content after transplantation compared with that before transplantation, but only 2 cases ( 10 . 0 %, 2 /20 ) of children had completely negative urine GAG after transplantation. Conclusions HSCT can restore IDS activity in peripheral blood leukocytes to normal value in MPS Ⅱ children, but it has limited effect on reducing urinary GAG content. It can reduce urinary GAG content to a certain extent, but most of them do not reach the normal level.