印记遗传病的诊治  

Diagnosis and management of genetic imprinting disorders

作　　者：戴阳丽[1] 钟娩玲 潮昀琦 邹朝春[1] DAI Yang-li;ZHONG Mian-ling;CHAO Yun-qi;ZOU Chao-chun(Department of Endocrinology,the Children’s Hospital,Zhejiang University School of Medicine)

机构地区：[1]浙江大学医学院附属儿童医院内分泌科,浙江杭州310052

出　　处：《中国实用儿科杂志》2022年第4期256-261,共6页Chinese Journal of Practical Pediatrics

基　　金：国家自然科学基金(81371215,81670786);浙江省重点研发计划项目(2021C03094)。

摘　　要：印记遗传病是由基因组印记失调引起的一组罕见遗传性疾病。其常累及全身多个系统,临床表现多种多样且部分具有遗传异质性,因此易误诊、漏诊。由于印记遗传病发病机制复杂,多数尚不清楚,目前仍缺乏有效的治疗方法。文章通过介绍印记遗传病的发病机制、相关诊断方法及治疗研究进展,为印记遗传病的诊治提供参考。Imprinting disorders are a group of rare genetic diseases caused by genomic imprinting dysregulation.They are largely misdiagnosed or missed due to the fact that they involve multiple systems and the clinical manifestations are various,some of which are with genetic heterogeneity.The pathogenesis of imprinting disorders is complex and unclear,resulting in a lack of effective treatment methods.This article introduces the pathogenesis,related diagnosis methods and the latest progress in treatment research of imprinting disorders in order to provide reference for the diagnosis and management of imprinting disorders.

关 键 词：基因组印记 印记遗传病 诊断 治疗 

分 类 号：R72[医药卫生—儿科]