甲基丙二酸尿症脑损伤及诊疗对策
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摘要
甲基丙二酸尿症可引起多器官损害,主要累及神经系统,是造成患儿严重残疾和死亡的重要原因之一。甲基丙二酸尿症脑损伤受到越来越多的关注,文章阐述甲基丙二酸尿症神经系统损伤机制及其临床特点、诊断及治疗,以提高临床医生的诊治水平。
Methylmalonic aciduria can cause multiple organ injury,especially brain damage. If left untreated,the diseases usually result in severe disability and death in children. The brain damage of methylmalonic aciduria should be paid more attention to. This review describes the mechanism,clinical features,diagnosis and treatment of methylmalonic aciduria,aimed to improve the clinician's diagnosis and treatment of this disease.
Methylmalonic aciduria can cause multiple organ injury,especially brain damage. If left untreated,the diseases usually result in severe disability and death in children. The brain damage of methylmalonic aciduria should be paid more attention to. This review describes the mechanism,clinical features,diagnosis and treatment of methylmalonic aciduria,aimed to improve the clinician's diagnosis and treatment of this disease.
引文
[1]Melo DR,Kowaltowski AJ,Wajner M,et al.Mitochondrial energy metabolism in neurodegeneration associated with methylmalonic acidemia[J].J Bioenerg Biomembr,2011,43(1):39-46.
[2]Baumgartner MR,H?rster F,Dionisi-Vici C,et al.Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia[J].Orphanet J Rare Dis,2014,(9):130.
[3]Manoli L,Sloan JL,Venditti CP.Isolated methylmalonic acidemia[M]//Adam MP,Ardinger HH,Pagon RA,et al.Gene reviews.Seattle(WA):University of Washington,Seattle,2016:1993-2017.
[4]O’Shea CJ,Sloan JL,Wiggs EA,et al.Neurocognitive phenotype of isolated methylmalonic acidemia[J].Pediatrics,2012,129(6):1541-1551.
[5]刘玉鹏,马艳艳,吴桐菲,等.早发型甲基丙二酸尿症160例新生儿期异常表现[J].中华儿科杂志,2012,50(6):410-414.
[6]Royes LF,Gabbi P,Ribeiro LR,et al.A neuronal disruption in redox homeostasis elicited by ammonia alters the glycine/glutamate(GABA)cycle and contributes to MMA-induced excitability[J].Amino Acids,2016,48(6):1373-1389.
[7]Ma X,Zhang Y,Yang Y,et al.Epilepsy in children with methylmalonic acidemia:electroclinical features and prognosis[J].Brain Dev,2011,33(9):790-795.
[8]Viegas CM,Zanatta?,Grings M,et al.Disruption of redox homeostasis and brain damage caused in vivo by methylmalonic acid and ammonia in cerebral cortex and striatum of developing rats[J].Free Radic Res,2014,48(6):659-669.
[9]Gabbi P,Ribeiro LR,JessiéMG,et al.Methylmalonate induces inflammatory and apoptotic potential:a link to glial activation and neurological dysfunction[J].J Neuropathol Exp Neurol,2017,76(3):160-178.
[10]Fernandes CG,Borges CG,Seminotti B,et al.Experimental evidence that methylmalonic acid provokes oxidative damage and compromises antioxidant defenses in nerve terminal and striatum of young rats[J].Cell Mol Neurobiol,2011,31(5):775-785.
[11]Melo DR,Mirandola SR,Assun??o NA,et al.Methylmalonate impairs mitochondrial respiration supported by NADH-linked substrates:involvement of mitochondrial glutamate metabolism[J].J Neurosci Res,2012,90(6):1190-1199.
[12]Carrillo-Carrasco N,Chandler RJ,Venditti CP.Combined methylmalonic acidemia and homocystinuria,cbl C type.I.Clinical presentations,diagnosis and management[J].J Inherit Metab Dis,2012,35(1):91-102.
[13]季涛云,张月华,李飞天,等.以周围神经损伤为主要表现的甲基丙二酸尿症合并同型半胱氨酸血症1例[J].北京大学学报:医学版,2013,45(2):303-306.
[14]Martinelli D,Dotta A,Massella L,et al.Cobalamin C defect presenting as severe neonatal hyperammonemia[J].Eur J Pediatr,2011,170(7):887-890.
[15]Fraser JL,Venditti CP.Methylmalonic and propionic acidemias:clinical management update[J].Curr Opin Pediatr,2016,28(6):682-693.
[16]Gündüz M,Ekici F,Ozayd?n E,et al.Reversible pulmonary arterial hypertension in cobalamin-dependent cobalamin C disease due to a novel mutation in the MMACHC gene[J].Eur J Pediatr,2014,173(12):1707-1710.
[17]常杏芝,杨艳玲,孙芳,等.甲基丙二酸尿症合并同型半胱氨酸血症致多系统损害[J].临床儿科杂志,2005,23(8):523-526.
[18]Wang X,Sun W,Yang Y,et al.A clinical and gene analysis of late-onset combined methylmalonic aciduria and homocystinuria,cbl C type,in China[J].J Neurol Sci,2012,318(1-2):155-159.
[19]张月华,杨艳玲,王爽,等.晚发型甲基丙二酸尿症的临床和实验室研究[J].中国医刊,2005,40(3):34-37.
[20]刘玉鹏,杨艳玲.甲基丙二酸尿症cbl C型合并同型半胱氨酸血症的临床与实验室研究进展[J].中华儿科杂志,2013,51(4):313-316.
[21]Carrillo N,Adams D,Venditti CP.Disorders of intracellular cobalamin metabolism[M]//Adam MP,Ardinger HH,Pagon RA,et al.Gene reviews.Seattle(WA):University of Washington,Seattle,2013:1993-2017.
[22]I?ikay S,Temel L,Keskin M.Imaging findings associated with methylmalonic aciduria[J].Pediatr Neurol,2014,50(4):435-436.
[23]刘玥,阴捷,彭芸,等.56例儿童甲基丙二酸血症的脑改变影像学特点[J].医学影像学杂志,2013,23(2):165-169.
[24]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.
[25]Radmanesh A,Zaman TH,Molaei S,et al.Methylmalonic acidemia:brain imaging findings in 52 children and a review of the literature[J].Pediatr Radiol,2008,38(10):1054-1061.
[26]赵英,张月华,杨艳玲,等.甲基丙二酸血症合并癫痫27例临床特点及预后分析[J].中国实用儿科杂志,2011,26(1):37-40.
[27]Kanaumi T,Takashima S,Hirose S,et al.Neuropathology of methylmalonic acidemia in a child[J].Pediatr Neurol,2006,34(2):156-159.
[28]顾学范.临床遗传代谢病[M].北京:人民卫生出版社,2015:106-107.
[29]Manoli I,Myles JG,Sloan JL,et al.A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods.Part 2:cobalamin C deficiency[J].Genet Med,2016,18(4):396-404.
[30]Pinar-Sueiro S,Martínez-Fernández R,Lage-Medina S,et al.Optic neuropathy in methylmalonic acidemia:the role of neuroprotection[J].J Inherit Metab Dis,2010,33(Suppl 3):199-203.
[31]Ktena YP,Paul SM,Hauser NS,et al.Delineating the spectrum of impairments,disabilities,and rehabilitation needs in methylmalonic acidemia(MMA)[J].Am J Med Genet Part A,2015,167(9):2075-2084.
[32]李辉,高阳旭,张宏武,等.脑室-腹腔分流术治疗甲基丙二酸尿症并脑积水[J].中华实用儿科临床杂志,2017,32(10):788-790.
[2]Baumgartner MR,H?rster F,Dionisi-Vici C,et al.Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia[J].Orphanet J Rare Dis,2014,(9):130.
[3]Manoli L,Sloan JL,Venditti CP.Isolated methylmalonic acidemia[M]//Adam MP,Ardinger HH,Pagon RA,et al.Gene reviews.Seattle(WA):University of Washington,Seattle,2016:1993-2017.
[4]O’Shea CJ,Sloan JL,Wiggs EA,et al.Neurocognitive phenotype of isolated methylmalonic acidemia[J].Pediatrics,2012,129(6):1541-1551.
[5]刘玉鹏,马艳艳,吴桐菲,等.早发型甲基丙二酸尿症160例新生儿期异常表现[J].中华儿科杂志,2012,50(6):410-414.
[6]Royes LF,Gabbi P,Ribeiro LR,et al.A neuronal disruption in redox homeostasis elicited by ammonia alters the glycine/glutamate(GABA)cycle and contributes to MMA-induced excitability[J].Amino Acids,2016,48(6):1373-1389.
[7]Ma X,Zhang Y,Yang Y,et al.Epilepsy in children with methylmalonic acidemia:electroclinical features and prognosis[J].Brain Dev,2011,33(9):790-795.
[8]Viegas CM,Zanatta?,Grings M,et al.Disruption of redox homeostasis and brain damage caused in vivo by methylmalonic acid and ammonia in cerebral cortex and striatum of developing rats[J].Free Radic Res,2014,48(6):659-669.
[9]Gabbi P,Ribeiro LR,JessiéMG,et al.Methylmalonate induces inflammatory and apoptotic potential:a link to glial activation and neurological dysfunction[J].J Neuropathol Exp Neurol,2017,76(3):160-178.
[10]Fernandes CG,Borges CG,Seminotti B,et al.Experimental evidence that methylmalonic acid provokes oxidative damage and compromises antioxidant defenses in nerve terminal and striatum of young rats[J].Cell Mol Neurobiol,2011,31(5):775-785.
[11]Melo DR,Mirandola SR,Assun??o NA,et al.Methylmalonate impairs mitochondrial respiration supported by NADH-linked substrates:involvement of mitochondrial glutamate metabolism[J].J Neurosci Res,2012,90(6):1190-1199.
[12]Carrillo-Carrasco N,Chandler RJ,Venditti CP.Combined methylmalonic acidemia and homocystinuria,cbl C type.I.Clinical presentations,diagnosis and management[J].J Inherit Metab Dis,2012,35(1):91-102.
[13]季涛云,张月华,李飞天,等.以周围神经损伤为主要表现的甲基丙二酸尿症合并同型半胱氨酸血症1例[J].北京大学学报:医学版,2013,45(2):303-306.
[14]Martinelli D,Dotta A,Massella L,et al.Cobalamin C defect presenting as severe neonatal hyperammonemia[J].Eur J Pediatr,2011,170(7):887-890.
[15]Fraser JL,Venditti CP.Methylmalonic and propionic acidemias:clinical management update[J].Curr Opin Pediatr,2016,28(6):682-693.
[16]Gündüz M,Ekici F,Ozayd?n E,et al.Reversible pulmonary arterial hypertension in cobalamin-dependent cobalamin C disease due to a novel mutation in the MMACHC gene[J].Eur J Pediatr,2014,173(12):1707-1710.
[17]常杏芝,杨艳玲,孙芳,等.甲基丙二酸尿症合并同型半胱氨酸血症致多系统损害[J].临床儿科杂志,2005,23(8):523-526.
[18]Wang X,Sun W,Yang Y,et al.A clinical and gene analysis of late-onset combined methylmalonic aciduria and homocystinuria,cbl C type,in China[J].J Neurol Sci,2012,318(1-2):155-159.
[19]张月华,杨艳玲,王爽,等.晚发型甲基丙二酸尿症的临床和实验室研究[J].中国医刊,2005,40(3):34-37.
[20]刘玉鹏,杨艳玲.甲基丙二酸尿症cbl C型合并同型半胱氨酸血症的临床与实验室研究进展[J].中华儿科杂志,2013,51(4):313-316.
[21]Carrillo N,Adams D,Venditti CP.Disorders of intracellular cobalamin metabolism[M]//Adam MP,Ardinger HH,Pagon RA,et al.Gene reviews.Seattle(WA):University of Washington,Seattle,2013:1993-2017.
[22]I?ikay S,Temel L,Keskin M.Imaging findings associated with methylmalonic aciduria[J].Pediatr Neurol,2014,50(4):435-436.
[23]刘玥,阴捷,彭芸,等.56例儿童甲基丙二酸血症的脑改变影像学特点[J].医学影像学杂志,2013,23(2):165-169.
[24]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.
[25]Radmanesh A,Zaman TH,Molaei S,et al.Methylmalonic acidemia:brain imaging findings in 52 children and a review of the literature[J].Pediatr Radiol,2008,38(10):1054-1061.
[26]赵英,张月华,杨艳玲,等.甲基丙二酸血症合并癫痫27例临床特点及预后分析[J].中国实用儿科杂志,2011,26(1):37-40.
[27]Kanaumi T,Takashima S,Hirose S,et al.Neuropathology of methylmalonic acidemia in a child[J].Pediatr Neurol,2006,34(2):156-159.
[28]顾学范.临床遗传代谢病[M].北京:人民卫生出版社,2015:106-107.
[29]Manoli I,Myles JG,Sloan JL,et al.A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods.Part 2:cobalamin C deficiency[J].Genet Med,2016,18(4):396-404.
[30]Pinar-Sueiro S,Martínez-Fernández R,Lage-Medina S,et al.Optic neuropathy in methylmalonic acidemia:the role of neuroprotection[J].J Inherit Metab Dis,2010,33(Suppl 3):199-203.
[31]Ktena YP,Paul SM,Hauser NS,et al.Delineating the spectrum of impairments,disabilities,and rehabilitation needs in methylmalonic acidemia(MMA)[J].Am J Med Genet Part A,2015,167(9):2075-2084.
[32]李辉,高阳旭,张宏武,等.脑室-腹腔分流术治疗甲基丙二酸尿症并脑积水[J].中华实用儿科临床杂志,2017,32(10):788-790.