新闻 > 经济
404 Not Found

404 Not Found

Sorry for the inconvenience.
Please report this message and include the following information to us.
Thank you very much!

URL: http://3g.china.com:8080/act/news/11155042/20170908/31328487.html
Server: cms-8-252
Date: 2024/03/29 21:31:44

Powered by China
China

罕见病中的罕见病 C型尼曼匹克期盼福音

2017-09-08 19:41:46   中国经济网

中新网9月8日电 记者从2017年第十二届国际罕见病与孤儿药大会暨第六届中国罕见病高峰论坛上获悉,用于治疗罕见病C型尼曼匹克病(NPC)的药物麦格司他胶囊(泽维可)在中国上市。

图为:9月7日,全球首个用于治疗罕见病C型尼曼匹克病的药物麦格司他胶囊(泽维可)在中国上市

C型尼曼匹克病(NPC)是一种基因突变(NPC1和/或NPC2)导致的遗传性神经鞘磷脂沉积病,其显著特征为细胞内游离胆固醇转运缺陷,导致溶酶体内大量脂质异常沉积,产生毒性。患者群体的发病年龄差异甚大,会影响婴儿、儿童、成人。患者发病年龄不同,临床表现也不同,包括一系列非特异性的系统性和神经性症状,随着疾病的进展患者会出现致残性神经症状与提早死亡,大部分患者会在发病后10-25年内死亡。

早期婴儿型,早期症状常表现为长时间的胆汁淤积性黄疸、肝脾肿大、肌张力减退和运动里程发育延迟,垂直性核上性眼肌麻痹。

晚期婴幼儿和青少年型,会出现很多其他的高度异质的渐进性神经系统症状,比如进行性加重的小脑受损症状、共济失调、肌张力减低、吞咽困难、构音障碍、痴笑猝倒发作和癫痫,同时可伴随学习障碍和行为问题。

青春期患者和成人型患者早期,经常见于进行性加重的认知减退和运动障碍,可同时伴随诸如早发性精神病、偏执妄想症、幻觉和妄想等精神症状。随着C型尼曼匹克病(NPC)病情进展,所有这些症状都会变得越来越严重,对患者生活质量的影响也越来越大。

图为:上海新华医院儿科副主任医师张惠文医生在接受采访时介绍C型尼曼匹克病

据国内知名儿童神经科医生介绍,C型尼曼匹克病(NPC)是进行性的,不可逆的,并且是致死的一种疾病,也是一种典型的单基因隐性遗传疾病,身为携带者的父母有1/4的可能生出会有临床症状的患儿。国外报道的C型尼曼匹克病(NPC)的最小发生率大约是1:100000到1:120000,均纳入了罕见病保障的体系。国内的发病率数据暂时还缺乏权威统计。根据中国尼曼匹克关爱中心的数据目前我国登记在册确诊的尼曼匹克患者30多人,目前的诊断人数和中国人群潜在的患者数量还有相当大差距,因此在提升诊断率,提高公众意识,发展新诊断技术,加强医生教育和高风险人群筛查方面,还需进行更多的工作。在过去5-10年间,C型尼曼匹克病(NPC)的诊断方式有了相当大的进步,过去严重侵入性,耗时很长的的骨髓穿刺染色观察、皮肤取样培养的方式,现已让位于创伤小、速度快、精确度高的血指标检查和基因检测。国内的专家医生队伍也在这方面做出了很大的贡献,目前国内多所医院已有被确诊的患者。

上一页1/2下一页
404 Not Found

404 Not Found

Sorry for the inconvenience.
Please report this message and include the following information to us.
Thank you very much!

URL: http://3g.china.com:8080/act/news/11155042/20170908/31328487.html
Server: cms-8-252
Date: 2024/03/29 21:31:44

Powered by China
China
404 Not Found

404 Not Found

Sorry for the inconvenience.
Please report this message and include the following information to us.
Thank you very much!

URL: http://3g.china.com:8080/act/news/11155042/20170908/31328487.html
Server: cms-8-252
Date: 2024/03/29 21:31:44

Powered by China
China

相关阅读

404 Not Found

404 Not Found

Sorry for the inconvenience.
Please report this message and include the following information to us.
Thank you very much!

URL: http://3g.china.com:8080/act/news/11155042/20170908/31328487.html
Server: cms-8-252
Date: 2024/03/29 21:31:44

Powered by China
China
404 Not Found

404 Not Found

Sorry for the inconvenience.
Please report this message and include the following information to us.
Thank you very much!

URL: http://3g.china.com:8080/act/news/11155042/20170908/31328487.html
Server: cms-8-252
Date: 2024/03/29 21:31:44

Powered by China
China
404 Not Found

404 Not Found

Sorry for the inconvenience.
Please report this message and include the following information to us.
Thank you very much!

URL: http://3g.china.com:8080/act/news/11155042/20170908/31328487.html
Server: cms-8-252
Date: 2024/03/29 21:31:44

Powered by China
China
分享到:
0 0
404 Not Found

404 Not Found

Sorry for the inconvenience.
Please report this message and include the following information to us.
Thank you very much!

URL: http://3g.china.com:8080/act/news/11155042/20170908/31328487.html
Server: cms-8-252
Date: 2024/03/29 21:31:44

Powered by China
China
404 Not Found

404 Not Found

Sorry for the inconvenience.
Please report this message and include the following information to us.
Thank you very much!

URL: http://3g.china.com:8080/act/news/11155042/20170908/31328487.html
Server: cms-8-252
Date: 2024/03/29 21:31:44

Powered by China
China

美图推荐

404 Not Found

404 Not Found

Sorry for the inconvenience.
Please report this message and include the following information to us.
Thank you very much!

URL: http://3g.china.com:8080/act/news/11155042/20170908/31328487.html
Server: cms-8-252
Date: 2024/03/29 21:31:44

Powered by China
China
404 Not Found

404 Not Found

Sorry for the inconvenience.
Please report this message and include the following information to us.
Thank you very much!

URL: http://3g.china.com:8080/act/news/11155042/20170908/31328487.html
Server: cms-8-252
Date: 2024/03/29 21:31:44

Powered by China
China
404 Not Found

404 Not Found

Sorry for the inconvenience.
Please report this message and include the following information to us.
Thank you very much!

URL: http://3g.china.com:8080/act/news/11155042/20170908/31328487.html
Server: cms-8-252
Date: 2024/03/29 21:31:44

Powered by China
China
404 Not Found

404 Not Found

Sorry for the inconvenience.
Please report this message and include the following information to us.
Thank you very much!

URL: http://3g.china.com:8080/act/news/11155042/20170908/31328487.html
Server: cms-8-252
Date: 2024/03/29 21:31:44

Powered by China
China

为您推荐

加载更多>>
404 Not Found

404 Not Found

Sorry for the inconvenience.
Please report this message and include the following information to us.
Thank you very much!

URL: http://3g.china.com:8080/act/news/11155042/20170908/31328487.html
Server: cms-8-252
Date: 2024/03/29 21:31:44

Powered by China
China
404 Not Found

404 Not Found

Sorry for the inconvenience.
Please report this message and include the following information to us.
Thank you very much!

URL: http://3g.china.com:8080/act/news/11155042/20170908/31328487.html
Server: cms-8-252
Date: 2024/03/29 21:31:44

Powered by China
China
404 Not Found

404 Not Found

Sorry for the inconvenience.
Please report this message and include the following information to us.
Thank you very much!

URL: http://3g.china.com:8080/act/news/11155042/20170908/31328487.html
Server: cms-8-252
Date: 2024/03/29 21:31:44

Powered by China
China