Genetics of Nephrotic Syndrome Presenting in Childhood: Core Curriculum 2019.
Genetics of Nephrotic Syndrome Presenting in Childhood: Core Curriculum 2019.
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儿童期肾病综合征的遗传学：2019 年核心课程。
DOI：
10.1053/j.ajkd.2019.01.033
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发表时间：
2019
期刊：
影响因子：
--
通讯作者：
Sampson,MatthewG
中科院分区：
文献类型：
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作者：
Watanabe,Andreia;Feltran,LucianaS;Sampson,MatthewG
肾病综合征(NS)是管理和治疗中最具挑战性的疾病之一，部分原因是我们对其发病机制和进展缺乏特定的分子理解。这限制了我们提供靶向治疗或准确预测的能力。幸运的是，NS中的基因组发现及其向基因组信息医学的转化使我们能够提高我们对NS的分子解剖学的理解，以及我们护理NS患者的能力。在这个核心课程中，我们回顾了在儿童NS中发现的特定基因和基因座，特别是孟德尔起源的NS，黑人患者中APOL1相关的NS，与类固醇敏感的NS相关的HLA区域变异，它们的生物学影响，人群中的患病率，以及临床相关因素。我们还回顾了人类疾病遗传结构的基本原理、技术和现有的分析策略，以发现与疾病相关的基因变异。掌握现代基因组学的概念和词汇，以及解释遗传学研究结果的能力，是照顾患有NS的儿童的肾科医生的基本技能。因此，我们希望使他们能够理解这一领域的文献，适当地安排基因测试并准确地解释结果，并考虑他们可能如何参与或推动NS的下一波基因组发现。
Nephrotic syndrome (NS) is one of the most challenging conditions to manage and treat, partly because we lack a specific molecular understanding of its pathogenesis and progression. This limits our ability to provide targeted therapy or precise prognostications. Fortunately, genomic discovery in NS and its translation to genomic-informed medicine is allowing us to improve our understanding of the molecular anatomy of NS and our ability to care for patients with NS. In this Core Curriculum, we review the specific genes and loci discovered in childhood NS, specifically NS of Mendelian origin,APOL1-associated NS in black patients,HLAregion variants associated with steroid-sensitive NS, their biological impacts, prevalence across populations, and clinical correlates. We also review the fundamentals of genetic architecture of human disease, technologies, and analytic strategies that currently exist to discover disease-related genetic variations. A facility with the concepts and vocabulary of modern genomics and ability to interpret results of genetic studies are essential skills for nephrologists caring for children with NS. As such, we hope to empower them to understand the literature in this area, appropriately order genetic tests and accurately interpret the results, and consider how they may participate in or drive the next wave of genomic discoveries in NS.