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基因警示信号:基层医疗实践中进行基因思考的线索

Genetic red flags: clues to thinking genetically in primary care practice.

作者信息

Whelan Alison J, Ball Susie, Best Lyle, Best Robert G, Echiverri Susan C, Ganschow Pamela, Hopkin Robert J, Mayefsky Jay, Stallworth James

机构信息

Department of Medicine and Pediatrics, Washington University School of Medicine, Campus Box 8073, 660 South Euclid Avenue, St. Louis, MO 63110, USA.

出版信息

Prim Care. 2004 Sep;31(3):497-508, viii. doi: 10.1016/j.pop.2004.04.010.

Abstract

This article presents an approach to "thinking genetically" in primary care. Busy practitioners often lack the time to consider thoroughly whether their patients have an underlying genetic diagnosis. To assist the primary care clinician, a working group of the Genetics in Primary Care Faculty Development Initiative developed a simple mnemonic, Family GENES, that alerts the clinician to consider genetic causes in the differential diagnosis. In addition to family history, the red flags include Groups of anomalies, Early or Extreme presentations of common diseases, Neurodevelopmental or Neurodegenerative conditions, Exceptional or unusual pathology, and Surprising laboratory values. This article discusses the components of the mnemonic, provides examples, and gives guidelines to appropriate actions once the possibility of a genetic diagnosis has been raised.

摘要

本文介绍了一种在初级保健中“进行基因思考”的方法。忙碌的从业者常常没有时间彻底考虑他们的患者是否存在潜在的基因诊断。为帮助初级保健临床医生,初级保健遗传学师资发展倡议组织的一个工作组制定了一个简单的助记符——家庭基因(Family GENES),它能提醒临床医生在鉴别诊断时考虑基因病因。除家族史外,警示信号还包括异常群组、常见疾病的早期或极端表现、神经发育或神经退行性疾病、特殊或不寻常的病理学情况以及令人惊讶的实验室值。本文讨论了该助记符的组成部分,提供了示例,并给出了一旦提出基因诊断可能性后的适当行动指南。

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