Kidney Int:家族性遗产性肾脏疾病的新型诊断方法!

2017-09-02 MedSci MedSci原创

遗传性肾脏疾病包括很多种,目前已知有多种基因都可以导致具有多种临床表现的特异性表型和单一基因缺陷。测序技术的进步使得能够通过检测越来越多的已知致病基因来进行家族性肾病的遗传诊断。然而,目前将致病基因的研究结果转化为临床应用仍然十分有限。近期,一篇发表在杂志Kidney Int上的文章报告了国家认可的家族性肾病诊断遗传学的研究结果。由多学科专家团队开发了一种靶向外切蛋白测序方法,其中包含十个策划基因

遗传性肾脏疾病包括很多种,目前已知有多种基因都可以导致具有多种临床表现的特异性表型和单一基因缺陷。测序技术的进步使得能够通过检测越来越多的已知致病基因来进行家族性肾病的遗传诊断。然而,目前将致病基因的研究结果转化为临床应用仍然十分有限。


近期,一篇发表在杂志Kidney Int上的文章报告了国家认可的家族性肾病诊断遗传学的研究结果。

由多学科专家团队开发了一种靶向外切蛋白测序方法,其中包含十个策划基因面板(207个基因)和个体化的患者表型的变异评估。在两年内受试的135个家庭中,有58个家族确定了遗传诊断(致病基因变异体)。虽然在非典型溶血性尿毒症综合征(88% vs. 17%)的某些小组中发现显着差异,但是儿科与成人先证者家族的遗传诊断率相似(46% vs. 40%)。

在发现Alport综合征(27例中有22例)和肾小管疾病(10例中8例)的诊断率较高,但是,肾脏和尿道先天性异常的单因素诊断率在13例中仅1例。

临床肾脏辅助和遗传多学科委员会审查了此项研究的质量报告。重要的是,对于诊断,这种基于表型方法的不确定意义的变体极少。因此,在遗传性肾脏疾病中使用靶向的大规模并行测序方法具有诊断大多数肾脏表型潜在遗传病症的能力。

原始出处:
Mallett AJ, McCarthy HJ, et al. Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders. Kidney Int. 2017 Aug 23. pii: S0085-2538(17)30466-0. doi: 10.1016/j.kint.2017.06.013.

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    2017-09-04 gwc389
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    2017-09-04 wetgdt
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    2017-09-02 184****9840

    学习了受益匪浅

    0

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    2017-09-02 忠诚向上

    好好看下.内容丰富

    0

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