遗传代谢病诊疗新进展及面临的新挑战
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摘要
遗传代谢病(inherited metabolic disorders,IMD)是一类由细胞核基因或线粒体DNA突变所引起的以细胞生化功能破坏为特征的先天性代谢紊乱。近年来,随着生化分析、酶学及基因技术的发展,使得更多的IMD明确病因,有助于开发新的药物及进行基因治疗,但与此同时也带来很多新的挑战。本文对目前IMD诊疗所面临的新进展及新挑战进行述评,以提高医务人员对遗传代谢病诊断、治疗和预防的认知。
Inherited metabolic disorder(IMD)is a class of genetic disorders characterized by disruption of cellular biochemical functions caused by mutation in genomic or mitochondrial DNA. Recently,the advances in technology of biochemistry and enzyme and gene have led to significant progress in detection and treatment such as new disorders and disease are described regularly and targeted drugs and gene therapy are explored. In this article, the recent advances and challenges about diagnosis and treatment to facilitate medical workers the better and more comprehensive understanding of IMD will be reviewed.
Inherited metabolic disorder(IMD)is a class of genetic disorders characterized by disruption of cellular biochemical functions caused by mutation in genomic or mitochondrial DNA. Recently,the advances in technology of biochemistry and enzyme and gene have led to significant progress in detection and treatment such as new disorders and disease are described regularly and targeted drugs and gene therapy are explored. In this article, the recent advances and challenges about diagnosis and treatment to facilitate medical workers the better and more comprehensive understanding of IMD will be reviewed.
引文
[1]El-Hattab AW.Inborn errors of metabolism[J].Clin Perinatol,2015,42(2):413-439.
[2]林书祥,舒剑波,王朝,等.15851例遗传代谢病高危患儿的临床分析中国当代儿科杂志[J].2017,19(12):1243-1247.
[3]郝虎,李思涛,欧阳学军,等.遗传性代谢病高危婴幼儿4710例尿素酶预处理-气相色谱-质谱技术筛查分析[J].中华实用儿科临床杂志,2015,30(21):1660-1662.
[4]吴宝铮,薛鹏强.新生儿遗传代谢病4785例筛查结果分析报告[J].山西医药杂志,2018,47(11):1336-1337.
[5]Lund AM,Christensen E,Skovby F.Diagnosis and acute treatment of inborn metabolic diseases in infants[J].Ugeskr Laeger,2002,164(48):5613-5619.
[6]Mathers CD,Loncar D.Projections of global mortality and burden of disease from 2002 to 2030[J].Plos Med,2006,3(11):E442.
[7]Moammar H,Cheriyan G,Mathew R,et al.Incidence and patterns of inborn errors of metabolism in the Eastern Province of Saudi Arabia,1983-2008[J].Ann Saudi Med,2010,30(4):271-277.
[8]Saudubray JM,Sedel F,Walter JH.Clinical approach to treatable inborn metabolic diseases:an introduction[J].J Inherit Metab Dis,2006,29(2-3):261-274.
[9]刘明芳.184063例应用串联质谱技术筛查遗传代谢病分析[J].中国优生与遗传杂志,2018,26(1):8-12.
[10]杨楠,韩连书,叶军,等.新生儿期氨基酸、有机酸及脂肪酸氧化代谢病疾病谱分析[J].临床儿科杂志,2012,30(9):805-808.
[11]肖昕,郝虎.质谱技术在小儿遗传性代谢病筛查中的应用[J].中国新生儿科杂志,2013,28(1):4-7.
[12]Lew RM,Burnett L,Proos AL,et al.Tay-Sachs disease:current perspectives from Australia[J].Appl Clin Genet,2015,21(8):19-25.
[13]Deik A,Saunders-Pullman R.Atypical presentation of late-onset Tay-Sachs disease[J].Muscle Nerve,2014,49(5):768-771.
[14]黄倬,韩连书,叶军,等.甲基丙二酸血症患者143例资料分析[J].中华内分泌代谢杂志,2014,30(6):490-494.
[15]吴海兰,董世霄,刘红,等.新生儿甲基丙二酸血症的临床特点分析[J].山西医科大学学报,2018,49(1):48-52.
[16]Leonard JV,Morris AA.Diagnosis and early management of inborn errors of metabolism presenting around the time of birth[J].Acta Paediatr,2006,95(1):6-14.
[17]韩炳娟,韩炳超,邹卉.串联质谱技术在新生儿遗传代谢性疾病筛查中的应用[J].中国妇幼保健,2013,28(29):4907-4909.
[18]张娟玲,武雅俐,刘郁明,等.串联质谱在遗传代谢性疾病筛查中的应用[J].中国优生与遗传杂志,2016,24(4):12-14.
[19]曾伟宏,欧阳海梅,梁嘉颖,等.气相色谱-质谱联用技术在遗传代谢病诊断和治疗监测中的应用[J].广东医学,2017,38(19):2997-3000.
[20]Hui J,Tang NL,Li CK,et al.Inherited metabolic diseases in the Southern Chinese population:spectrum of diseases and estimated incidence from recurrent mutations[J].Pathology,2014,46(5):375-382.
[21]Tebani A,Abily-Donval L,Afonso C,et al.Clinical metabolomics:the new metabolic window for inborn errors of metabolism investigations in the post-genomic era[J].Int J Mol Sci,2016,17(7):E1167.
[22]Stranneheim H,Engvall M,Naess K,et al.Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism[J].BMC Genomics,2014,15:1090.
[23]El-Hattab AW,Sutton VR.Approach to inborn errors of metabolism in pediatrics[J].Pediatr Clin North Am,2018,65(2):19-20.
[24]El-Hattab AW.Inborn errors of metabolism[J].Clin Perinatol,2015,42(2):413-439.
[25]Wertheim-Tysarowska K,Gos M,Sykut-Cegielska J,et al.Genetic analysis in inherited metabolic disorders--from diagnosis to treatment.Own experience,current state of knowledge and perspectives[J].Dev Period Med,2015,19(4):413-431.
[26]Saudubray JM,Sedel F,Walter JH.Clinical approach to treatable inborn metabolic diseases:an introduction[J].J Inherit Metab Dis,2006,29(2-3):261-274.
[27]杨艳玲,韩连书.单纯型甲基丙二酸尿症饮食治疗与营养管理专家共识[J].中国实用儿科杂志,2018,33(7):481-486.
[28]Ginocchio VM,Brunetti-Pierri N.Progress toward improved therapies for inborn errors of metabolism[J].Hum Mol Genet,2015,6:418.
[29]Baruteau J,Waddington SN,Alexander IE,et al.Gissen gene therapy for monogenic liver diseases:clinical successes,current challenges and future prospects[J].J Inherit Metab Dis,2017,40(4):497-517.
[30]Bryant LM,Christopher DM,Giles AR,et al.Lessons learned from the clinical development and market authorization of Glybera[J].Hum Gene Ther Clin Dev,2013,24(2):55-64.
[31]Hofherr SE,Matern D.Systematic ranking of inborn errors of metabolism as targets for gene therapy[J].Mol Genet Metab,2010,100(3):215-218.
[32]Brunetti-Pierri N,Lee B.Gene therapy for inborn errors of liver metabolism[J].Mol Genet Metab,2005,86(1-2):13-24.
[33]Raper SE,Chirmule N,Lee FS,et al.Fatal systemic inflammatory response syndrome in a ornithine transcarbamylase deficient patient following adenoviral gene transfer[J].Mol Genet Metab,2003,80(1-2):148-158.
[34]Gaudet D,Méthot J,Kastelein J.Gene therapy for lipoprotein lipase deficiency[J].Curr Opin Lipidol,2012,23(4):310-320.
[2]林书祥,舒剑波,王朝,等.15851例遗传代谢病高危患儿的临床分析中国当代儿科杂志[J].2017,19(12):1243-1247.
[3]郝虎,李思涛,欧阳学军,等.遗传性代谢病高危婴幼儿4710例尿素酶预处理-气相色谱-质谱技术筛查分析[J].中华实用儿科临床杂志,2015,30(21):1660-1662.
[4]吴宝铮,薛鹏强.新生儿遗传代谢病4785例筛查结果分析报告[J].山西医药杂志,2018,47(11):1336-1337.
[5]Lund AM,Christensen E,Skovby F.Diagnosis and acute treatment of inborn metabolic diseases in infants[J].Ugeskr Laeger,2002,164(48):5613-5619.
[6]Mathers CD,Loncar D.Projections of global mortality and burden of disease from 2002 to 2030[J].Plos Med,2006,3(11):E442.
[7]Moammar H,Cheriyan G,Mathew R,et al.Incidence and patterns of inborn errors of metabolism in the Eastern Province of Saudi Arabia,1983-2008[J].Ann Saudi Med,2010,30(4):271-277.
[8]Saudubray JM,Sedel F,Walter JH.Clinical approach to treatable inborn metabolic diseases:an introduction[J].J Inherit Metab Dis,2006,29(2-3):261-274.
[9]刘明芳.184063例应用串联质谱技术筛查遗传代谢病分析[J].中国优生与遗传杂志,2018,26(1):8-12.
[10]杨楠,韩连书,叶军,等.新生儿期氨基酸、有机酸及脂肪酸氧化代谢病疾病谱分析[J].临床儿科杂志,2012,30(9):805-808.
[11]肖昕,郝虎.质谱技术在小儿遗传性代谢病筛查中的应用[J].中国新生儿科杂志,2013,28(1):4-7.
[12]Lew RM,Burnett L,Proos AL,et al.Tay-Sachs disease:current perspectives from Australia[J].Appl Clin Genet,2015,21(8):19-25.
[13]Deik A,Saunders-Pullman R.Atypical presentation of late-onset Tay-Sachs disease[J].Muscle Nerve,2014,49(5):768-771.
[14]黄倬,韩连书,叶军,等.甲基丙二酸血症患者143例资料分析[J].中华内分泌代谢杂志,2014,30(6):490-494.
[15]吴海兰,董世霄,刘红,等.新生儿甲基丙二酸血症的临床特点分析[J].山西医科大学学报,2018,49(1):48-52.
[16]Leonard JV,Morris AA.Diagnosis and early management of inborn errors of metabolism presenting around the time of birth[J].Acta Paediatr,2006,95(1):6-14.
[17]韩炳娟,韩炳超,邹卉.串联质谱技术在新生儿遗传代谢性疾病筛查中的应用[J].中国妇幼保健,2013,28(29):4907-4909.
[18]张娟玲,武雅俐,刘郁明,等.串联质谱在遗传代谢性疾病筛查中的应用[J].中国优生与遗传杂志,2016,24(4):12-14.
[19]曾伟宏,欧阳海梅,梁嘉颖,等.气相色谱-质谱联用技术在遗传代谢病诊断和治疗监测中的应用[J].广东医学,2017,38(19):2997-3000.
[20]Hui J,Tang NL,Li CK,et al.Inherited metabolic diseases in the Southern Chinese population:spectrum of diseases and estimated incidence from recurrent mutations[J].Pathology,2014,46(5):375-382.
[21]Tebani A,Abily-Donval L,Afonso C,et al.Clinical metabolomics:the new metabolic window for inborn errors of metabolism investigations in the post-genomic era[J].Int J Mol Sci,2016,17(7):E1167.
[22]Stranneheim H,Engvall M,Naess K,et al.Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism[J].BMC Genomics,2014,15:1090.
[23]El-Hattab AW,Sutton VR.Approach to inborn errors of metabolism in pediatrics[J].Pediatr Clin North Am,2018,65(2):19-20.
[24]El-Hattab AW.Inborn errors of metabolism[J].Clin Perinatol,2015,42(2):413-439.
[25]Wertheim-Tysarowska K,Gos M,Sykut-Cegielska J,et al.Genetic analysis in inherited metabolic disorders--from diagnosis to treatment.Own experience,current state of knowledge and perspectives[J].Dev Period Med,2015,19(4):413-431.
[26]Saudubray JM,Sedel F,Walter JH.Clinical approach to treatable inborn metabolic diseases:an introduction[J].J Inherit Metab Dis,2006,29(2-3):261-274.
[27]杨艳玲,韩连书.单纯型甲基丙二酸尿症饮食治疗与营养管理专家共识[J].中国实用儿科杂志,2018,33(7):481-486.
[28]Ginocchio VM,Brunetti-Pierri N.Progress toward improved therapies for inborn errors of metabolism[J].Hum Mol Genet,2015,6:418.
[29]Baruteau J,Waddington SN,Alexander IE,et al.Gissen gene therapy for monogenic liver diseases:clinical successes,current challenges and future prospects[J].J Inherit Metab Dis,2017,40(4):497-517.
[30]Bryant LM,Christopher DM,Giles AR,et al.Lessons learned from the clinical development and market authorization of Glybera[J].Hum Gene Ther Clin Dev,2013,24(2):55-64.
[31]Hofherr SE,Matern D.Systematic ranking of inborn errors of metabolism as targets for gene therapy[J].Mol Genet Metab,2010,100(3):215-218.
[32]Brunetti-Pierri N,Lee B.Gene therapy for inborn errors of liver metabolism[J].Mol Genet Metab,2005,86(1-2):13-24.
[33]Raper SE,Chirmule N,Lee FS,et al.Fatal systemic inflammatory response syndrome in a ornithine transcarbamylase deficient patient following adenoviral gene transfer[J].Mol Genet Metab,2003,80(1-2):148-158.
[34]Gaudet D,Méthot J,Kastelein J.Gene therapy for lipoprotein lipase deficiency[J].Curr Opin Lipidol,2012,23(4):310-320.