遗传代谢病治疗进展

张尧

doi:10.11852/zgetbjzz2020-0873

PDF(651 KB)

中国儿童保健杂志 ›› 2020, Vol. 28 ›› Issue (7) : 721-724. DOI: 10.11852/zgetbjzz2020-0873

专家笔谈

遗传代谢病治疗进展

张尧

作者信息 +

Progress in the treatment of inborn errors of metabolisms

ZHANG Yao

Author information +

文章历史 +

摘要

遗传代谢病是一组以代谢通路异常为特征的单基因遗传病。随着新生儿代谢筛查的普及,越来越多的遗传代谢病得到及时的诊断和救治。根据遗传代谢病的发病机制,其治疗包括减少底物、清除毒性代谢产物、酶替代治疗、增强酶活性疗法、细胞或器官移植及基因治疗等。许多代谢病得到一定的改善,甚至治愈。但是仍然有一些治疗方法处于研究阶段,许多代谢病亟待更为有效的治疗。产前诊断是预防遗传代谢病的有效方法。

Abstract

Inborn errors of metabolisms (IEMs) are a group of single-gene genetic diseases,characterized by abnormal metabolic pathways.With the popularization of neonatal metabolic screening,more and more IEMs are diagnosed and treated in time.According to the pathogenesis of IEMs,the treatment includes the reduction of substrates,removal of toxic metabolites,enzyme replacement therapy,enhancement of enzyme activity,cell or organ transplantation,and gene therapy.Therefore,many IEMs have been improved or even cured.However,some therapies are still in the stage of research,and more effective treatments are warranted.Prenatal diagnosis is an effective method to prevent IEMs.

导出引用

张尧. 遗传代谢病治疗进展[J]. 中国儿童保健杂志. 2020, 28(7): 721-724 https://doi.org/10.11852/zgetbjzz2020-0873

ZHANG Yao. Progress in the treatment of inborn errors of metabolisms[J]. Chinese Journal of Child Health Care. 2020, 28(7): 721-724 https://doi.org/10.11852/zgetbjzz2020-0873

中图分类号： R725.8

参考文献

[1] Lanpher B,Brunetti-Pierri N,Lee B.Inborn errors of metabolism:the flux from Mendelian to complex diseases[J].Nat Rev Genet,2006,7:449-460.
[2] Gambello MJ,Li H.Current strategies for the treatment of inborn errors of metabolism[J].J Genet Genomics,2018,45(2):61-70.
[3] 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.
[4] 中华医学会儿科学分会内分泌遗传代谢学组,中华预防医学会中华预防医学会出生缺陷预防与控制专业.高苯丙氨酸血症的诊治共识[J].中华儿科杂志,2014,52(6):420-425.
[5] Boy N,Muhlhausen C,Maier EM,et al.Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I:second revision[J].J Inherit Metab Dis,2017,40:75-101.
[6] O′Kane RL,Vina JR,Simpson I,et al.Cationic amino acid transport across the blood-brain barrier is mediated exclusively by system y+[J].Am J Physiol Endocrinol Metab,2006,291:E412-419.
[7] Ho G,Christodoulou J.Phenylketonuria:translating research into novel therapies[J].Transl Pediatr,2014,3:49-62.
[8] Singh RH,Cunningham AC,Mofidi S,et al.Updated,web-ba sed nutrition management guideline for PKU:an evidence and consensus based approach[J].Mol Genet Metab,2016,118:72-83.
[9] Vockley J,Burton B,Berry GT,et al.UX007 for the treatment of long chain-fatty acid oxidation disorders:safety and efficacy in children and adults following 24 weeks of treatment[J].Mol Genet Metab,2017,120:370-377.
[10] Larochelle J,Alvarez F,Bussieres JF,et al.Effect of nitisin one (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec[J].Mol Genet Metab,2012,107:49-54.
[11] Häberle J,Burlina A,Chakrapani A,et al.Suggested guidelines for the diagnosis and management of urea cycle disorders:first revision[J].J Inherit Metab Dis,2019,42(6):1192-1230.
[12] Matoori S,Leroux JC.Recent advances in the treatment of hyperammonemia[J].Adv Drug Deliv Rev,2015,90:55-68.
[13] Laemmle A,Stricker T,Häberle J.Switch from sodium phenylbutyrate to glycerol phenylbutyrate improved metabolic stability in an adolescent with ornithine transcarbamylase deficiency[J].JIMD Rep,2017,31:11-14.
[14] Stacpoole PW,Nagaraja NV,Hutson AD.Efficacy of dichloroacetate as a lactate-lowering drug[J].J Clin Pharmacol,2003,43(7):683-691.
[15] Fouque F,Brivet M,Boutron A,et al.Differential effect of DCA treatment on the pyruvate dehydrogenase complex in patients with severe PDHC deficiency[J].Pediatr Res,2003,53(5):793-799.
[16] Concolino D,Deodato F,Parini R.Enzyme replacement the rapy:efficacy and limitations[J].Ital J Pediatr,2018,44(Suppl 2):120.
[17] Lachmann RH.Treating lysosomal storage disorders:What have we learnt? [J].J Inherit Metab Dis,2020,43(1):125-132.
[18] Hydery T,Coppenrath VA.A comprehensive review of peg valiase,an enzyme substitution therapy for the treatment of phenylketonuria[J].Drug Target Insights,2019,13:1-8.
[19] Hoskins JA,Holliday SB,Greenway AM.The metabolism of cinnamic acid by healthy andphenylketonuric adults:a kinetic study [J].Biomed Mass Spectrom,1984,11(6):296-300.
[20] Matalonga L,Gort L,Ribes A.Small molecules as therapeutic agents for inborn errors of metabolism [J].J Inherit Metab Dis,2017,40(2):177-193.
[21] Mauer M,Sokolovskiy A,Barth JA,et al.Reduction of pod ocyte globotriaosylceramide content in adult male patients with Fabry disease with amenable GLA mutations following 6 months of migalastat treatment [J].J Med Genet,2017,54(11):781-786.
[22] Alfadhel M,Al-Thihli K,Moubayed H,et al.Drug treatment of inborn errors of metabolism:a systematic review [J].Arch Dis Child,2013,98:454-461.
[23] Wynn R.Stem cell transplantation in inherited metabolic di sorders [J].Hematology Am Soc Hematol Educ Program,2011,2011:285-291.
[24] Oishi K,Arnon R,Wasserstein MP,et al.Liver transplantation for pediatric inherited metabolic disorders:considerations for indications,complications,and perioperative management [J].Pediatr Transplant,2016,20(6):756-769.
[25] 孙丽莹,朱志军,魏林,等.肝移植治疗儿童遗传代谢性疾病42例[J].中华器官移植杂志,2017,38(6):337-342.
[26] Pillai NR,Stroup BM,Poliner A,et al.Liver transplantation in propionic and methylmalonic acidemia:A single center study with literature review[J].Mol Genet Metab,2019,128(4):431-443.
[27] Badell IR,Hanish SI,Hughes CB,et al.Domino liver transplantation in maple syrup urine disease:a case report and review of the literature[J].Transplant Proc,2013,45:806-809.
[28] Ginocchio VM,Ferla R,Auricchio A,et al.Current status on clinical development of adeno-associated virus-mediated liver-directed gene therapy for inborn errors of metabolism[J].Hum Gene Ther,2019,30(10):1204-1210.
[29] Sondhi D,Johnson L,Purpura K,et al.Long-term expression and safety of administration of AAVrh.10hCLN2 to the brain of rats and nonhuman primates for the treatment of late infantile neuronal ceroid lipofuscinosis[J].Hum Gene Ther Methods,2012,23:324-335.
[30] Chandler RJ,Venditti CP.Gene therapy for methylmalonic acidemia:past,present,and future[J].Hum Gene Ther,2019,30(10):1236-1244.
[31] Yin H,Xue W,Chen S,et al.Genome editing with Cas9 in adult mice corrects a disease mutation and phenotype[J].Nat Biotechnol,2014,32:551-553.