Genetic Evaluation for Monogenic Disorders of Low Bone Mass and Increased Bone Fragility: What Clinicians Need to Know

IF 4.2 2区 医学 Q1 ENDOCRINOLOGY & METABOLISM
Emily Busse, Brendan Lee, Sandesh C. S. Nagamani
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引用次数: 0

Abstract

Purpose of Review

The purpose of this review is to outline the principles of clinical genetic testing and to provide practical guidance to clinicians in navigating genetic testing for patients with suspected monogenic forms of osteoporosis.

Recent Findings

Heritability assessments and genome-wide association studies have clearly shown the significant contributions of genetic variations to the pathogenesis of osteoporosis. Currently, over 50 monogenic disorders that present primarily with low bone mass and increased risk of fractures have been described. The widespread availability of clinical genetic testing offers a valuable opportunity to correctly diagnose individuals with monogenic forms of osteoporosis, thus instituting appropriate surveillance and treatment.

Summary

Clinical genetic testing may identify the appropriate diagnosis in a subset of patients with low bone mass, multiple or unusual fractures, and severe or early-onset osteoporosis, and thus clinicians should be aware of how to incorporate such testing into their clinical practices.

低骨量和骨脆性增加的单基因疾病的遗传评估:临床医生须知
综述目的本综述旨在概述临床基因检测的原则,并为临床医生提供实际指导,帮助他们对疑似单基因型骨质疏松症患者进行基因检测。目前,已描述了 50 多种主要表现为骨量低和骨折风险增加的单基因疾病。临床基因检测的普及为正确诊断单基因形式的骨质疏松症患者提供了宝贵的机会,从而可对其进行适当的监测和治疗。摘要临床基因检测可确定低骨量、多发性或异常骨折、严重或早发骨质疏松症患者的适当诊断,因此临床医生应了解如何将此类检测纳入临床实践。
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来源期刊
Current Osteoporosis Reports
Current Osteoporosis Reports Medicine-Endocrinology, Diabetes and Metabolism
CiteScore
8.80
自引率
2.30%
发文量
44
期刊介绍: This journal intends to provide clear, insightful, balanced contributions by international experts that review the most important, recently published clinical findings related to the diagnosis, treatment, management, and prevention of osteoporosis. We accomplish this aim by appointing international authorities to serve as Section Editors in key subject areas, such as current and future therapeutics, epidemiology and pathophysiology, and evaluation and management. Section Editors, in turn, select topics for which leading experts contribute comprehensive review articles that emphasize new developments and recently published papers of major importance, highlighted by annotated reference lists. An international Editorial Board reviews the annual table of contents, suggests articles of special interest to their country/region, and ensures that topics are current and include emerging research. Commentaries from well-known figures in the field are also provided.
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