罕见病诊治思考与展望

doi:10.3969/j.issn.1673-8640.2021.02.001

检验医学 ›› 2021, Vol. 36 ›› Issue (2): 119-121.DOI: 10.3969/j.issn.1673-8640.2021.02.001

• 基因组技术与罕见病诊治专题 • 下一篇

罕见病诊治思考与展望

郁婷婷, 傅启华

上海交通大学医学院附属上海儿童医学中心,上海 200127

收稿日期:2020-12-09 出版日期:2021-02-28 发布日期:2021-02-28
作者简介:null
郁婷婷,女,1983年生,博士,副研究员,主要从事遗传性疾病的分子诊断和发病机制研究。

Thinking and prospect in the diagnosis and treatment of rare diseases

YU Tingting, FU Qihua

Shanghai Children's Medical Center,Shanghai Jiao Tong University School of Medicine,Shanghai 200127,China

Received:2020-12-09 Online:2021-02-28 Published:2021-02-28

摘要/Abstract

摘要：

近年来,随着医学技术的高速发展,罕见病的诊治取得了巨大进步,高通量测序技术在罕见病临床诊断中发挥了重要作用。通过基因诊断,临床医生对罕见病的基因突变谱系、临床表型等都有了新的认识,可采取有针对性的治疗和预后管理。文章结合“基因组技术与罕见病诊治”专题中的多篇报道,从罕见病表型分析、检测技术的合理应用、遗传检测结果及其临床意义的正确分析、罕见病药物研发等角度展开述评,以期为罕见病的临床实践提供参考。

关键词: 罕见病, 表型, 高通量测序

Abstract:

With the rapid development of medical technology,great progress has been made in the diagnosis and treatment of rare diseases in recent years. High-throughput sequencing technology plays an important role in the clinical diagnosis of rare diseases. Through gene diagnosis,clinicians have a new understanding on the mutations and clinical phenotypes of rare diseases. And targeted treatment strategies and prognosis management were adopted. In combination with several reports in this special issue of rare diseases,we reviewed the phenotype analysis of rare diseases,the reasonable application of detection techniques,the accurate analysis of genetic results,and the development of orphan drugs. It is hoped that it will provide reference for clinical practice of rare diseases.

Key words: Rare diseases, Phenotype, High-throughput sequencing

中图分类号:

R446.1

郁婷婷, 傅启华. 罕见病诊治思考与展望[J]. 检验医学, 2021, 36(2): 119-121.

YU Tingting, FU Qihua. Thinking and prospect in the diagnosis and treatment of rare diseases[J]. Laboratory Medicine, 2021, 36(2): 119-121.

参考文献 10

[1]	马端,李定国,张学,等. 中国罕见病防治的机遇与挑战[J]. 中国循证儿科杂志,2011,6(2):81-82.
[2]	RICHTER T,NESTLER-PARR S,BABELA R,et al.Rare disease terminology and definitions-A systematic global review:report of the ISPOR rare disease special interest group[J]. Value Health,2015,18(6):906-914.
[3]	WRIGHT C F,FITZPATRICK D R,FIRTH H V.Paediatric genomics:diagnosing rare disease in children[J]. Nat Rev Genet,2018,19(5):253-268.
[4]	KAUFMANN P,PARISER A R,AUSTIN C.From scientific discovery to treatments for rare diseases-the view from the National Center for Advancing Translational Sciences-Office of Rare Diseases Research[J]. Orphanet J Rare Dis,2018,13(1):196.
[5]	ROBINSON P N,KÖHLER S,BAUER S,et al. The human phenotype ontology:a tool for annotating and analyzing human hereditary disease[J]. Am J Hum Genet,2008,83(5):610-615.
[6]	GUROVICH Y,HANANI Y,BAR O,et al.Identifying facial phenotypes of genetic disorders using deep learning[J]. Nat Med,2019,25(1):60-64.
[7]	STRANDE N T,RIGGS E R,BUCHANAN A H,et al.Evaluating the clinical validity of gene-disease associations:an evidence-based framework developed by the clinical genome resource[J]. Am J Hum Genet,2017,100(6):895-906.
[8]	RICHARDS S,AZIZ N,BALE S,et al.Standards and guidelines for the interpretation of sequence variants:a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology[J]. Genet Med,2015,17(5):405-424.
[9]	TAMBUYZER E,VANDENDRIESSCHE B,AUSTIN C P,et al.Therapies for rare diseases:therapeutic modalities,progress and challenges ahead[J]. Nat Rev Drug Discov,2020,19(2):93-111.
[10]	STEIN C A,CASTANOTTO D.FDA-approved oligonucleotide therapies in 2017[J]. Mol Ther,2017,25(5):1069-1075.

[1]	缪星国, 叶慧, 苏菲菲. GeneXpert MTB/RIF检出量与结核分枝杆菌培养和利福平表型耐药的关系[J]. 检验医学, 2023, 38(9): 874-877.
[2]	郁婷婷, 王剑. 罕见病诊疗进展与挑战[J]. 检验医学, 2023, 38(2): 103-105.
[3]	蔡春艳, 上官华坤, 吴文涌, 张莹, 袁欣, 陈瑞敏. HUWE1基因变异致X连锁智力障碍临床表型和遗传学分析[J]. 检验医学, 2023, 38(2): 117-123.
[4]	王维维, 章黎华, 姜文理, 何珂骏, 万江波, 沈立松. CD5⁺急性B淋巴细胞白血病和急性髓系白血病各1例报道[J]. 检验医学, 2023, 38(2): 196-199.
[5]	池锐彬, 周卉芬, 叶铨秋, 李超锋. NGS快速诊断疑难鹦鹉热衣原体重症肺炎合并脓毒症休克1例报道[J]. 检验医学, 2023, 38(12): 1211-1212.
[6]	茹浩浩, 陈连勇, 杨星, 陈涛, 闫双群, 许琳. Xpert MTB/RIF与结核分枝杆菌利福平耐药表型检测一致性分析[J]. 检验医学, 2023, 38(11): 1032-1035.
[7]	王增睿, 杨霞, 宁宗. 基于高通量测序诊断马尔尼菲蓝状菌病1例报道[J]. 检验医学, 2022, 37(7): 699-701.
[8]	方颖慧, 王卫国, 张华, 古艳, 郑芳, 李丽萍. 母细胞性浆细胞样树突状细胞肿瘤临床与实验室特点分析[J]. 检验医学, 2022, 37(5): 433-437.
[9]	李可可, 肖扬. 凝血因子Ⅴ与出血和血栓的相关性研究进展[J]. 检验医学, 2022, 37(4): 396-399.
[10]	周毓菁, 徐晶晶, 徐杰, 刘冬梅, 何军. 高通量测序技术在慢性肾病患者刚地弓形虫感染诊断中的价值[J]. 检验医学, 2021, 36(6): 596-599.
[11]	李育敏, 蔡钦泉, 覃俊龙, 金潇, 陈亚琼, 莫云均, 李悦, 张秀明. 3种β缺失型地中海贫血基因型与表型分析[J]. 检验医学, 2021, 36(6): 642-645.
[12]	王亚楠, 张文. 镇江地区上呼吸道病毒感染患儿鼻腔病毒谱构成[J]. 检验医学, 2021, 36(4): 408-411.
[13]	黄斐, 张春燕, 潘柏申, 王蓓丽, 郭玮. SARS-CoV-2核酸检测技术进展及应用[J]. 检验医学, 2021, 36(4): 462-466.
[14]	袁牧歌, 吴文坚, 胡朝晖, 陈嘉昌, 于世辉, 欧小华, 毛琳琳, 吴海艳. 靶向捕获高通量测序技术在检测早期乳腺癌胚系突变中的应用价值[J]. 检验医学, 2021, 36(3): 325-329.
[15]	张仪, 王增阁, 王剑. 罕见病实验室诊断技术的进展[J]. 检验医学, 2021, 36(2): 122-129.

罕见病诊治思考与展望

Thinking and prospect in the diagnosis and treatment of rare diseases

RichHTML

PDF (PC)

可视化

摘要/Abstract

引用本文

使用本文

参考文献 10

相关文章 15

编辑推荐

Metrics