通过外基因组测序提前诊断和管理成年人的肝病
Melanie Zheng1, Aaron Hakim2, Chigoziri Konkwo1
1Department of Internal Medicine, Section of Digestive Diseases, Yale School of Medicine, New Haven, CT, USA.
EBioMedicine
|August 11, 2023
概括
全外体测序 (WES) 在33%的成年人中确定了肝病的遗传原因. 这项研究强调了WES在诊断成年人罕见遗传性肝病方面的价值.
科学领域:
- 遗传学 是一个遗传学.
- 肝病学 肝病学是一种肝病学.
- 医学诊断 医学诊断 医学诊断
背景情况:
- 整体外体测序 (WES) 在成人非瘤医学中未得到充分利用,特别是在肝脏疾病中.
- 存在一种误解,即成年人很少具有具有重大影响的罕见遗传变异.
- 未知病因的成年人肝病需要进行遗传调查.
研究的目的:
- 评估导致成年人肝病的罕见遗传变异的流行率和谱.
- 评估未诊断肝病的成年患者中WES的诊断产量.
主要方法:
- 在52名成年患者身上进行了全外体测序 (WES) 分析,这些患者患有来源不明的肝病.
- 患者与WES一起进行了全面的临床评估.
- 数据来自美国两个主要的高等学术医疗中心.
主要成果:
- 在33% (17/52) 的患者中确立了确定的或推定的遗传诊断.
- 大多数基因诊断 (12/17) 的患者以前没有肝病家族史.
- 胆固醇和肝硬化是诊断患者基因检测最常见的征兆.
结论:
- 成年时出现肝脏表现的遗传疾病比以前认为的更为常见.
- WES是评估和管理成年人无法解释的肝病的一个有价值的工具.
- 纳入WES可以提高诊断产量,并告知成人肝病的疾病发病因子.
相关概念视频
01:26Diseases of the Liver and Gallbladder
631
Liver and gallbladder diseases are a significant health concern, with prominent conditions including cirrhosis, hepatitis, non-alcoholic fatty liver disease (NAFLD), and gallstones. Jaundice is a common manifestation of liver and biliary disease.
Cirrhosis is characterized by the scarring of hepatic lobules in the liver, which are replaced by fibrous tissue, affecting the liver's normal functioning. NAFLD, on the other hand, is caused by an excessive build-up of fat in the liver, not...
Cirrhosis is characterized by the scarring of hepatic lobules in the liver, which are replaced by fibrous tissue, affecting the liver's normal functioning. NAFLD, on the other hand, is caused by an excessive build-up of fat in the liver, not...
631
01:25Ultrasound II: Endoscopic Ultrasound and FibroScan
139
Endoscopic Ultrasound (EUS) and FibroScan are valuable diagnostic tools in gastroenterology and hepatology, each with specific applications and techniques.
Endoscopic Ultrasound (EUS):
Endoscopic Ultrasound (EUS):
139
03:00Next-generation Sequencing
91.5K
The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
91.5K