Zhang Wen, Huang Yonglan, Su Xueying, Zhao Xiaoyuan, Sheng Huiying, Liang Cuili, Jiang Minyan, Zeng Chunhua, Cai Yanna, Lin Yunting, Shao Yongxian, Liu Sha, Jiang Hua, Liu Li
Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, 9 Jinsui Road, Guangzhou, 510623, Guangdong, China.
Department of Guangzhou Newborn Screening Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Ital J Pediatr. 2025 Mar 18;51(1):83. doi: 10.1186/s13052-025-01919-7.
Allogeneic hematopoietic stem cell transplantation (HSCT) has proven to be a viable treatment option for patients with mucopolysaccharidoses (MPS). We investigate the efficacy and improvements in the quality of life of HSCT in pediatric patients with MPS.
A retrospective analysis of transplantation data from 46 cases of MPS from a single institution in China was conducted.
The cohort of 46 patients included 9 cases of MPS I, 16 cases of MPS II, 15 cases of MPS IVA and 6 cases of MPS VI. The median age at diagnosis was 2.59 years. The median age at transplantation was 3.80 years. The median follow-up time was 3.1 years (range, 0.8-8.1 years) and 43 patients were alive. The incidence of grades II to IV aGVHD was 17.4%, wherein the incidence of grades III and IV aGVHD was 4.3%. The incidence of moderate-to-severe cGVHD was 6.5%. GAGs urinary excretion decreased and enzyme activity levels reached normal. After HSCT, multiple bone dysplasia, upper-airway obstruction and recurrent otitis media were significantly improved; vision, corneal clouding, cardiovascular disease, hepatosplenomegaly and hydrocephalus were improved or remained stable; neurological symptoms were improved or remained stable in most patients but progressed in others; the patients with MPS IH/S and MPS II reached nearly normal growth rate of height and weight. Meanwhile, the patients with MPS IH, MPS IVA and MPS VI remained poor growth after HSCT. The Activities of Daily Living (ADL) scores were improved in most patients with MPS. ADL scores in patients with severe phenotypes were lower than health control subjects and patients with attenuated phenotypes.
HSCT is a good therapeutic option for MPS and improves the quality of life of patients. MPS patients with attenuated phenotypes provide a better outcome in ADL after HSCT.
异基因造血干细胞移植（HSCT）已被证明是黏多糖贮积症（MPS）患者可行的治疗选择。我们研究了HSCT对小儿MPS患者的疗效及生活质量改善情况。
对来自中国一家机构的46例MPS患者的移植数据进行回顾性分析。
46例患者队列中包括9例MPS I型、16例MPS II型、15例MPS IVA型和6例MPS VI型。诊断时的中位年龄为2.59岁。移植时的中位年龄为3.80岁。中位随访时间为3.1年（范围0.8 - 8.1年），43例患者存活。II至IV级急性移植物抗宿主病（aGVHD）的发生率为17.4%，其中III级和IV级aGVHD的发生率为4.3%。中重度慢性移植物抗宿主病（cGVHD）的发生率为6.5%。黏多糖（GAGs）尿排泄减少，酶活性水平恢复正常。HSCT后，多处骨骼发育异常、上呼吸道梗阻和复发性中耳炎明显改善；视力、角膜混浊、心血管疾病、肝脾肿大和脑积水有所改善或保持稳定；大多数患者的神经症状有所改善或保持稳定，但其他患者病情进展；MPS IH/S型和MPS II型患者的身高和体重增长率接近正常。同时，MPS IH型、MPS IVA型和MPS VI型患者在HSCT后生长仍较差。大多数MPS患者的日常生活活动（ADL）评分有所改善。严重表型患者的ADL评分低于健康对照受试者和轻度表型患者。
HSCT是MPS的良好治疗选择，可改善患者生活质量。轻度表型的MPS患者在HSCT后的ADL方面预后更好。
