Aldenhoven Mieke, van den Broek Brigitte T A, Wynn Robert F, O'Meara Anne, Veys Paul, Rovelli Attilio, Jones Simon A, Parini Rossella, van Hasselt Peter M, Renard Marleen, Bordon Victoria, de Koning Tom J, Boelens Jaap Jan
Blood and Marrow Transplantation Program, Department of Pediatrics, and.
Laboratory for Translational Immunology, University Medical Center Utrecht, Utrecht, The Netherlands.
Blood Adv. 2017 Nov 7;1(24):2236-2242. doi: 10.1182/bloodadvances.2017011387. eCollection 2017 Nov 14.
Hurler syndrome (HS) is a lysosomal storage disease characterized by multisystem morbidity and death in early childhood. Hematopoietic stem cell transplantation (HSCT) results in long-term survival, although with significant residual disease burden. How this residual disease affects the health-related quality of life is unknown. Therefore, we conducted a multicenter cohort study on functional and psychosocial health and compared the outcomes to normative data using the Child Health Questionnaire and Pediatric Outcomes Data Collection Instrument. Perception of care was evaluated by the Measure of Processes of Care questionnaire. Sixty-three HS patients receiving HSCT with at least 3 years of follow-up after HSCT were included. The influence of potential predictors was analyzed using linear regression analysis, and correlation analysis was performed using Spearman rank correlation. Functional health of transplanted HS patients was significantly diminished compared with normative data (median physical summary score, -2.4 [range, -3.5 to -1.6]; median global functioning score, -3.2 [range, -4.8 to -1.8]). Psychosocial health was comparable or only slightly reduced compared with healthy peers (median psychosocial summary score, 0.15 [range, -0.7 to 0.8]). A higher obtained lysosomal enzyme level post-HSCT predicted for superior functional health. Overall, parents were satisfied with the care received. Functional health of transplanted HS patients appeared significantly more affected than psychosocial health. To improve functional health, the use of only noncarrier donors and striving to achieve full-donor chimerism, both resulting in higher enzyme levels, is advised. Assessing the health-related quality of life could play an important role in evaluating outcomes of HS patients receiving novel (cell) therapies, including autologous gene-transduced HSCT.
黏多糖贮积症I型（HS）是一种溶酶体贮积病，其特征为在儿童早期出现多系统病变并导致死亡。造血干细胞移植（HSCT）可使患者长期存活，不过仍存在显著的残留疾病负担。这种残留疾病如何影响与健康相关的生活质量尚不清楚。因此，我们开展了一项关于功能和心理社会健康的多中心队列研究，并使用儿童健康问卷和儿科结局数据收集工具将结果与标准数据进行比较。通过医疗过程评估问卷对护理感受进行评估。纳入了63例接受HSCT且HSCT后至少有3年随访期的HS患者。使用线性回归分析来分析潜在预测因素的影响，并使用Spearman等级相关性进行相关分析。与标准数据相比，接受移植的HS患者的功能健康显著受损（身体综合评分中位数为-2.4 [范围，-3.5至-1.6]；整体功能评分中位数为-3.2 [范围，-4.8至-1.8]）。与健康同龄人相比，心理社会健康相当或仅略有降低（心理社会综合评分中位数为0.15 [范围，-0.7至0.8]）。HSCT后获得的溶酶体酶水平较高预示着功能健康状况较好。总体而言，家长对所接受的护理感到满意。接受移植的HS患者的功能健康似乎比心理社会健康受到的影响更大。为改善功能健康，建议仅使用非携带者供体并努力实现完全供体嵌合，这两者均可导致酶水平升高。评估与健康相关的生活质量在评估接受新型（细胞）疗法（包括自体基因转导HSCT）的HS患者的结局中可能发挥重要作用。
