线粒体DNA突变及其在肾脏疾病发生中的作用

R. Gordillo de Anda
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引用次数: 0

摘要

线粒体DNA中的错误会影响需要高度依赖能量才能正常工作的组织,如大脑、心脏、肌肉和肾脏,ATP生成中的缺陷会影响这些组织,有时涉及多个器官,因此肌肥大症、脑肥大症可能与肾脏疾病有关,这种疾病在成人中很少见,在儿童中更常见,而儿童往往不被怀疑和低估。它们在一般人群中的患病率也被低估了,可能高达1-2万活产。
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Mitochondrial DNA Mutations and its Role in the Genesis of Renal Diseases an Update
The errors in the Mitochondrial DNA affects tissues that require highly dependent of energy to work properly like the Brain, the Heart, the Muscle and the Kidneys, the defects in the genesis of ATP affects this tissues sometimes involving more than one organ, therefore myophaties, encephalophaties, can be associated with renal diseaseswich rare in adults and more frequently in children in whom arefrequently unsuspected and underestimated. Their prevavalence in the general population is also underestimated and may be as high as 1-2:10,000 live births.
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