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线粒体疾病的临床视角

Clinical Perspectives of Mitochondrial Disorders.

作者信息

Finsterer Josef

机构信息

Krankenanstalt Rudolfstiftung, Vienna, Austria, E-mail:

出版信息

Pediatr Endocrinol Rev. 2018 Sep;16(1):203-208. doi: 10.17458/per.vol16.2018.f.mitochondrialdisorders.

Abstract

Mitochondrial disorders are increasingly recognised world-wide and represent a diagnostic and therapeutic challenge. This is due to the peculiarities of mitochondrial genetics and the extreme genotypic and phenotypic heterogeneity of these disorders. Traditional time-consuming and expensive diagnostic steps are increasingly replaced by first-line genetic approaches. Despite recent advances in the treatment and prevention of mitochondrial disorders, therapeutic approaches are still limited mainly to non-invasive or invasive symptomatic measures.

摘要

线粒体疾病在全球范围内越来越受到认可,并且是诊断和治疗方面的一大挑战。这是由于线粒体遗传学的特殊性以及这些疾病的极端基因型和表型异质性。传统耗时且昂贵的诊断步骤越来越多地被一线基因检测方法所取代。尽管最近在治疗和预防线粒体疾病方面取得了进展,但治疗方法仍然主要局限于非侵入性或侵入性的对症措施。

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