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32 和你 - 牙齿疾病的基因检测。

32 and you - genetic testing for dental disorders.

机构信息

Consultant in Paediatric Dentistry, Guy's and St Thomas' NHS Foundation Trust, London, UK.

King's College London Dental Institute Population and Patient health.

出版信息

Br Dent J. 2018 May 25;224(10):829-832. doi: 10.1038/sj.bdj.2018.360.

DOI:10.1038/sj.bdj.2018.360
PMID:29795503
Abstract

Genetic testing for serious illness and disease is becoming increasingly embedded in NHS healthcare. It can confirm a clinical diagnosis or guide therapy. Genetic testing for dental developmental disorders has moved beyond the realms of rarified grant-funded research groups and is now sufficiently rapid and affordable to be offered as part of a clinical service in some dental teaching hospitals. The first presentation of some genetic diseases may be in the dental surgery, so the family dentist should hone their diagnostic skills to identify patients who would benefit from referral to a genetics service. While diagnosis may sometimes guide treatment, there are now examples where it can even lead to cure. This article aims to describe some concepts and issues that a dentist should consider when referring for testing for a genetic dental disorder, and proposes that this subject area should be expanded in the dental undergraduate and postgraduate curricula in the UK.

摘要

遗传性疾病和病症的基因检测在国民保健制度(NHS)医疗保健中越来越普及。它可以确认临床诊断或指导治疗。牙发育障碍的基因检测已经超出了稀有资助研究小组的范围,现在已经足够快速和负担得起,可以在一些牙科教学医院的临床服务中提供。一些遗传性疾病的首次表现可能出现在牙科手术中,因此家庭牙医应该磨练自己的诊断技能,以识别出那些从遗传服务转介中受益的患者。虽然诊断有时可以指导治疗,但现在有些例子甚至可以导致治愈。本文旨在描述牙医在为遗传性牙科疾病进行检测时应考虑的一些概念和问题,并建议在英国的牙科本科和研究生课程中扩展这一领域。

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本文引用的文献

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Asfotase alfa therapy for children with hypophosphatasia.阿法磷酸酶治疗低磷酸酶血症儿童。
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Host-derived salivary biomarkers in diagnosing periodontal disease: systematic review and meta-analysis.宿主来源的唾液生物标志物在牙周病诊断中的应用:系统评价与荟萃分析
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FGF21 Mediates Endocrine Control of Simple Sugar Intake and Sweet Taste Preference by the Liver.成纤维细胞生长因子21介导肝脏对单糖摄入和甜味偏好的内分泌控制。
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Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations.由隐性FAM20A突变引起的釉质-肾综合征(ERS)的特征性口腔表现。
Orphanet J Rare Dis. 2014 Jun 14;9:84. doi: 10.1186/1750-1172-9-84.
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Future developments in XLHED treatment approaches.XLHED治疗方法的未来发展。
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