Uygun Vedat, Yalçın Koray, Daloğlu Hayriye, Öztürkmen Seda, Çelen Suna, Zhumatayev Suleimen, Karasu Gülsün, Yeşilipek Akif
Department of Pediatric Bone Marrow Transplantation Unit, Faculty of Medicine, İstinye University, Medical Park Antalya Hospital, Antalya, Turkey.
Department of Pediatric Bone Marrow Transplantation Unit, Faculty of Medicine, Bahçeşehir University, Medical Park Göztepe Hospital, İstanbul, Turkey.
Clin Exp Pediatr. 2025 Aug;68(8):601-607. doi: 10.3345/cep.2024.02033. Epub 2025 Mar 11.
It is uncertain whether hematopoietic stem cell transplantation (HSCT), versus standard enzyme replacement therapy (ERT), is effective for type VI mucopolysaccharidosis (MPS VI).
New related advances in HSCT prompted an examination of the transplant procedures performed in a recent cohort.
This single-center retrospective study reviewed the medical records of 17 pediatric patients with MPS VI who underwent allogeneic HSCT in 2021-2023. All conditioning regimens were myeloablative. Engraftment days, complications, and survival data were recorded. As follow-up was short, we recorded only 6-minute walk test distance before versus after HSCT.
The patients underwent transplantation at a median of 6-year postdiagnosis. All were engrafted and had a full or mixed chimerism. Enzyme levels were within normal ranges. Walking tests of all evaluable patients improved at a median 9-month follow-up.
HSCT aims to improve the disease and provides a permanent solution at the enzyme level, eliminating ERT. Our study showed that HSCT, a less expensive and permanent treatment option, should be offered to patients with MPS VI.
造血干细胞移植（HSCT）与标准酶替代疗法（ERT）相比，对VI型黏多糖贮积症（MPS VI）是否有效尚不确定。
HSCT的新相关进展促使对最近一组患者所进行的移植程序进行检查。
这项单中心回顾性研究回顾了2021年至2023年期间接受异基因HSCT的17例MPS VI儿科患者的病历。所有预处理方案均为清髓性。记录植入天数、并发症和生存数据。由于随访时间较短，我们仅记录了HSCT前后的6分钟步行试验距离。
患者在诊断后中位6年接受移植。所有患者均实现植入，且具有完全或混合嵌合。酶水平在正常范围内。所有可评估患者的步行试验在中位9个月随访时有所改善。
HSCT旨在改善疾病，并在酶水平上提供永久性解决方案，从而无需ERT。我们的研究表明，HSCT作为一种成本较低的永久性治疗选择，应提供给MPS VI患者。
