新生儿筛查赫勒综合征有助于早期移植和良好的结果。

IF 3.2 3区医学 Q2 CLINICAL NEUROLOGY

Pediatric neurology Pub Date : 2025-02-01 DOI:10.1016/j.pediatrneurol.2024.11.004

Andrea Bauchat DO , Andre Stokhuyzen MSN, CPNP-AC , Timothy A. Driscoll MD , Paul L. Martin MD, PhD , Joanne Kurtzberg MD , Kris M. Mahadeo MD, MPH , Vinod K. Prasad MD, MBBS

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引用次数: 0

摘要

背景：造血细胞移植（HCT）是儿童赫勒综合征（HS）的标准护理治疗方法。本研究描述了新生儿筛查（NBS）对这些患者HCT结果的影响。方法：回顾性研究2017 - 2023年通过NBS诊断并转诊至杜克大学的HS患者。患者接受以布硫芬为基础的清髓方案和不相关的脐带血HCT，并用环孢素和霉酚酸酯预防移植物抗宿主病。结果：患者（N =9）中位年龄为5.2个月，中位体重为7.8 kg。再输注总有核细胞中位数为14.8 × 107/kg。中性粒细胞和血小板植入的中位时间分别为17天和48天。未观察到原发性移植物衰竭或排斥反应。hct术后并发症包括窦道阻塞综合征、微血管病变和自身免疫性溶血性贫血。中位随访29.1个月（范围4.1-72.2），9例患者中有8例存活，α - l -伊杜糖醛酸酶（IDUA）水平正常，Lansky评分为90-100%，发展为里程碑。1例患者于+139天死于自身免疫性溶血性贫血（IDUA水平正常，+100天供体嵌合率为bb0 98%）。结论：NBS诊断的HS患者婴儿期早期脐带血移植安全可行，可纠正IDUA酶缺乏症。后续研究将确定这种方法的长期效益。

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Newborn Screening for Hurler Syndrome Facilitates Early Transplant and Good Outcomes

Background

Hematopoietic cell transplantation (HCT) is the standard of care treatment for children with Hurler syndrome (HS). This study describes the impact of newborn screening (NBS) on HCT outcomes for these patients.

Methods

Retrospective study of HS patients diagnosed through NBS and referred to Duke from 2017 to 2023. Patients received a myeloablative busulfan-based regimen and unrelated umbilical cord blood HCT, with cyclosporine and mycophenolate for graft-versus-host-disease prophylaxis.

Results

Patients (N =9) were transplanted at a median age of 5.2 months and median weight of 7.8 kg. Median reinfused total nucleated cell was 14.8 × 10⁷/kg. The median times to neutrophil and platelet engraftment were 17 and 48 days, respectively. No primary graft failures or rejections were observed. Post-HCT complications included sinusoidal obstructive syndrome, microangiopathy and autoimmune hemolytic anemia. At median follow-up of 29.1 months (range 4.1-72.2), 8 of 9 patients were alive with normal alpha-L-iduronidase (IDUA) levels, Lansky scores of 90-100%, and developing milestones. One patient died due to autoimmune hemolytic anemia on day +139 (with normal IDUA level and >98% donor chimerism at day +100).

Conclusions

Early umbilical cord blood transplant during infancy of HS patients diagnosed through NBS is safe, feasible, and corrects IDUA enzyme deficiency. Follow-up studies will ascertain the long-term benefits of this approach.

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来源期刊

Pediatric neurology 医学-临床神经学

CiteScore

4.80

自引率

2.60%

发文量

176

审稿时长

78 days

期刊介绍： Pediatric Neurology publishes timely peer-reviewed clinical and research articles covering all aspects of the developing nervous system. Pediatric Neurology features up-to-the-minute publication of the latest advances in the diagnosis, management, and treatment of pediatric neurologic disorders. The journal''s editor, E. Steve Roach, in conjunction with the team of Associate Editors, heads an internationally recognized editorial board, ensuring the most authoritative and extensive coverage of the field. Among the topics covered are: epilepsy, mitochondrial diseases, congenital malformations, chromosomopathies, peripheral neuropathies, perinatal and childhood stroke, cerebral palsy, as well as other diseases affecting the developing nervous system.