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儿科消化系统常见遗传病的致病基因

Pathogenic genes of common genetic diseases in pediatric digestive system
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摘要 儿童消化系统疾病主要包括胃肠疾病、肝胆疾病、胰腺疾病.感染为消化系统疾病最主要的病因;随着经济水平提高,卫生状况的改善,儿童消化系统的疾病谱发生改变,由基因突变导致的遗传代谢病的发病率逐渐增高,遗传代谢病其非特异性的临床表现为该病的临床诊断造成了巨大困难.随着分子遗传学的快速发展,基因检测技术的难度及检测成本的降低,Panel 测序、全外显子组测序及全基因组测序等基因检测越来越多的被应用于临床.通过基因检测可以早期诊断遗传病从而改善疾病预后.先天性腹泻病及肠病,慢性胰腺炎,代谢性肝病,婴儿胆汁淤积性肝病,极早发炎症性肠病为儿童消化系统常见的遗传代谢病.本文就这些常见遗传代谢病的致病基因做一综述,为临床诊断提供思路. Pediatric digestive diseases mainly include gastrointestinal diseases, hepatobiliary diseases, and pancreatic diseases.Infection is the most important cause of digestive diseases.As the improvement of economic level and health status, the spectrum of diseases in children′s digestive system has changed.The incidence of genetic metabolic diseases caused by genetic mutations are gradually increasing, and the non-specific clinical manifestations of hereditary metabolic diseases have caused great difficulties in the clinical diagnosis.With the rapid development of molecular genetics, the difficulty of gene detection technology and the cost of detection are decreasing, gene detections such as Panel sequencing, whole exome sequencing and whole genome sequencing are increasingly used in clinical practice.Genetic testing can early diagnose genetic diseases and improve the prognosis of disease.Congenital diarrhea and enteropathy, chronic pancreatitis, metabolic liver disease, infantile cholestasis liver disease, very early inflammatory bowel disease are common metabolic diseases in children′s digestive system.In this review, the pathogenic genes of these common genetic and metabolic diseases are reviewed to provide ideas for clinical diagnosis.
作者 李健 孙梅 Li Jian;Sun Mei(Department of Pediatric Gastroenterology,Shengjing Hospital of China Medical University,Shenyang 110004,China)
出处 《中国小儿急救医学》 CAS 2019年第7期527-532,共6页 Chinese Pediatric Emergency Medicine
关键词 遗传病 基因 儿科 消化系统 Genetic diseases Genes Pediatric Digestive system
作者简介 通信作者:孙梅,Email:sunm@sj-hospital.org.
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