Granata Mariagrazia, Canto Carolina, Mazzarino Maria Clorinda, Fatuzzo Pasquale, Granata Antonio
G Ital Nefrol. 2015 Sep-Oct;32(5).
Clinical genetics plays a central role in the diagnostic practice, mainly due to both the hereditary and non-hereditary genetic component, which characterizes most of the diseases. This branch of medicine has been characterized by a rapid technological growth since 2003, when the entire human genome was sequenced. We need to consider the reduction in terms of both time and costs that the gene sequencing has gone through. Before, 13 years and about three billion dollars were needed, now it takes only a few weeks and about ten thousand dollars to sequence the entire human genome. The applicability of clinical genetics in nephrology is due to the fact that many kidney diseases are characterized by genetic mutations (e.g., von-Hippel Lindau syndrome, MYH9 related disorders, Fabry's syndrome, Liddle's and Bartter's Syndrome, and others). Clinical genetics plays, therefore, a crucial role since many of these diseases are often not properly diagnosed. In this review, we examine the new technologies that are available to the nephrologist for the molecular diagnosis of renal diseases.
临床遗传学在诊断实践中发挥着核心作用，主要是因为遗传和非遗传基因成分是大多数疾病的特征。自2003年人类全基因组测序完成以来，医学的这一分支呈现出快速的技术发展。我们需要考虑基因测序在时间和成本方面的减少。以前，对人类全基因组进行测序需要13年时间和大约30亿美元，现在只需几周时间和大约1万美元。临床遗传学在肾脏病学中的适用性在于，许多肾脏疾病具有基因突变特征（例如，冯·希佩尔-林道综合征、MYH9相关疾病、法布里综合征、利德尔综合征和巴特综合征等）。因此，临床遗传学起着至关重要的作用，因为其中许多疾病常常未得到正确诊断。在本综述中，我们研究了肾脏病学家可用于肾脏疾病分子诊断的新技术。
