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Clinical outcomes in elderly patients with Morquio a syndrome receiving enzyme replacement therapy - experience in a Colombian center
Molecular Genetics and Metabolism Reports ( IF 1.9 ) Pub Date : 2020-12-02 , DOI: 10.1016/j.ymgmr.2020.100679
Andrés Felipe Erazo-Narváez 1 , Juan Manuel Muñoz-Vidal 1 , Guillermo Hernando Rodríguez-Vélez 2 , María Amparo Acosta-Aragón 3, 4
Affiliation  

Introduction

Mucopolysaccharidosis type IV A (MPS IVA) or Morquio A syndrome is an autosomal recessive lysosomal storage disease caused by GALNS gene mutations that lead to a deficiency of the N-acetylgalactosamine-6-sulfate sulfatase enzyme and the accumulation of two glycosaminoglycans in cell lysosomes, namely, chondroitin and keratan sulfate.

Objective

To present two female patients with Morquio A syndrome in their late adult years (over 50 years of age) with a classical phenotype, treated with enzyme replacement therapy; and to present a summary of the natural history and the characteristics of the disease, and the benefit of comprehensive management.

Materials and methods

Descriptive clinical study before and after the treatment with enzyme replacement therapy as part of the comprehensive management of MPS IVA.

Results

Enzyme replacement therapy with elosulfase alfa was effective, with an adequate safety profile in these two patients, showing evidence of sustained improvement in terms of endurance and gait patterns.

Conclusion

We present two cases of MPS IVA, with longer survival than reported previously in classical phenotypes associated with this disease condition. There is a paucity of reports of similar cases in the literature. We believe that the clinical heterogeneity of the disease manifesting with the classical phenotype, together with comprehensive management, have played a role in the survival of these two patients. Therapy with elosulfase alfa as part of comprehensive management has been crucial; we suspect a clinical response and infer a better quality of life and reduced burden for the caregiver, supporting its use in older patients.



中文翻译:

接受酶替代疗法的老年 Morquio 综合征患者的临床结果 - 哥伦比亚中心的经验

介绍

IV A 型粘多糖贮积症 (MPS IVA) 或 Morquio A 综合征是一种常染色体隐性遗传性溶酶体贮积病,由GALNS基因突变引起,导致N-乙酰半乳糖胺-6-硫酸酯硫酸酯酶缺乏以及细胞溶酶体中两种糖胺聚糖的积累,即软骨素和硫酸角质素。

客观的

介绍两名成年晚期(50 岁以上)患有 Morquio A 综合征的女性患者,其具有经典表型,并接受酶替代疗法治疗;并总结疾病的自然史和特征以及综合治疗的益处。

材料和方法

作为 MPS IVA 综合管理的一部分,酶替代疗法治疗前后的描述性临床研究。

结果

使用 elosulfase alfa 进行酶替代疗法是有效的,这两名患者具有足够的安全性,显示出耐力和步态模式持续改善的证据。

结论

我们介绍了两例 MPS IVA 病例,其生存期比之前报道的与这种疾病相关的经典表型要长。文献中很少有类似案例的报道。我们认为,该疾病表现出经典表型的临床异质性以及综合治疗在这两名患者的生存中发挥了作用。作为综合管理一部分的 elosulfase alfa 治疗至关重要;我们怀疑其临床反应,并推断其可以改善生活质量并减轻护理人员的负担,支持其在老年患者中的使用。

更新日期:2020-12-03
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