抗肌营养不良蛋白基因无义突变的杜氏症状携带者阿特鲁伦的治疗方法。病例报告9个月随访结果。

Q3 Medicine
Acta Myologica Pub Date : 2018-12-01
Paola D'Ambrosio, Chiara Orsini, Vincenzo Nigro, Luisa Politano
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引用次数: 0

摘要

杜氏肌营养不良症(DMD)是一种影响骨骼肌和心肌的x连锁退行性疾病,由肌营养不良蛋白基因突变引起,主要是缺失和重复。点突变占13%,终止密码子突变更不常见。一种药物治疗由终止密码子基因突变引起的DMD患者,目前仍不稳定,基于其在减缓疾病进程方面的疗效的明确证明,最近已经可用。这种药物能够读取停止密码子;此外,它具有口服给药和更好的患者依从性的优点。我们报告一例27岁仍在活动的DMD症状携带者,其53外显子停止密码子突变(c.7792C > T;p.Gln2598Stop),开始使用剂量为2250毫克/人的Ataluren治疗,报告了肌肉力量的迅速主观改善。不幸的是,两个月后,患者因需要手术修复和长期康复的外伤性股骨骨折停止服用该药。随着2018年2月恢复服药,患者几乎立即报告了运动技能的改善,包括恢复行走的可能性,首先是有支持,然后是无支持。这些结果似乎更令人鼓舞,因为Duchenne患者在这个年龄几乎无法恢复骨折后的行走能力,并且扩大了用ataluren治疗具有无意义肌营养不良蛋白基因突变的症状性Duchenne携带者的可能性。此外,本文报道的病例支持有症状的DMD女性携带者必须享受与男性相同的治疗机会的概念。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Therapeutic approach with Ataluren in Duchenne symptomatic carriers with nonsense mutations in dystrophin gene. Results of a 9-month follow-up in a case report.

Duchenne muscular Dystrophy (DMD) is a X-linked degenerative disorder affecting skeletal muscles and myocardium caused by mutations in the dystrophin gene, mainly deletions and duplications. Point-mutations account for 13% and stop codon mutations are even more unfrequent. A drug treatment for patients with DMD caused by stop codon gene mutations and still ambulant, has become recently available, based on the clear demonstration of its efficacy in slowing the course of the disease. The drug is able to read through the stop codon; furthermore it has the advantage of an oral administration and a better patient's compliance. We report a case of a still ambulant 27 year-old DMD symptomatic carrier with a stop-codon mutation in exon 53 (c.7792C > T; p.Gln2598Stop), who started the treatment with Ataluren at a dosage of 2,250 mg/die, reporting a prompt subjective improvement in muscle strength. Unfortunately two months after, the patient discontinued taking the drug for a traumatic femur fracture requiring surgical repair and prolonged rehabilitation. With the resumption of the drug intake in February 2018, the patient reported almost immediately an improvement in motor skills, including the possibility of recovering walking, first with support and then unsupported. These results seem even more encouraging, as Duchenne patients hardly recover the ability to walk following a fracture at this age and extend the possibility to treat with ataluren also the symptomatic Duchenne carriers who have nonsense dystrophin gene mutations. Furthermore the case here reported supports the concept that symptomatic DMD female carriers must enjoy the same therapeutic opportunities offered to males.

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来源期刊
Acta Myologica
Acta Myologica Medicine-Cardiology and Cardiovascular Medicine
CiteScore
3.70
自引率
0.00%
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0
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