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线粒体脑肌病伴高乳酸血症和脑卒中样发作合并肠梗阻、急性胰腺炎一例 被引量：3

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摘要 临床资料患者男性，16岁，主因“发作性不省人事、四肢抽搐9d，反复呕吐7d”于2009年4月20日入院。患者既往体健。体检：外观消瘦，心肺腹无明显异常。
作者 林晓贞 陈万金 王柠 王志强 林珉婷 慕容慎行
机构地区 福建医科大学附属第医院神经内科 福建省神经病学研究所
出处 《中华神经科杂志》 CAS CSCD 北大核心 2010年第5期378-379,共2页 Chinese Journal of Neurology
基金 福建省高校创新团队培育计划资助项目（FMU-RT002）
关键词 线粒体脑肌病 卒中样发作 高乳酸血症 急性胰腺炎 肠梗阻 2009年 临床资料 四肢抽搐
分类号 R746 [医药卫生—神经病学与精神病学]
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二级参考文献28

  • 1郭玉璞,郭重,陈琳,张俊武,王文勇,李娟,刘秀琴,任海涛.MELAS型线粒体脑肌病的临床病理和基因研究[J].中华神经科杂志,1996,29(5):266-270. 被引量：18
  • 2姚生,郑日亮,毕鸿雁,王朝霞,袁云.线粒体DNA A3243G点突变在成年患者中的临床特点[J].中华神经科杂志,2007,40(4):220-224. 被引量：18
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  • 6Wong LJ, Boles RG. Mitochondrial DNA analysis in clinical laboratory diagnostics. Clin Chim Acta, 2005, 354 : 1-20.
  • 7Bai RK, Wong LJ. Detection and quantification of heteroplasmic mutant mitochondrial DNA by real-time amplification refractory mutation system quantitative PCR analysis: a single-step approach. Clin Chem, 2004 , 50: 996-1001.
  • 8Smith ML, Hua XY, Marsden DL, et al. Diabetes and mitochondrial encephalomyopathy with lactic acidosis and stroke like episodes (MELAS) : radiolabeled polymerase chain reaction is necessary for accurate detection of low percentages of mutation. J Clin Endocrinol Metab, 1997, 82: 2826-2831.
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共引文献2116

同被引文献20

  • 1Finsterer J, Harbo HF, Baets J, et al. EFNS guidelines on the molecular diagnosis of mitochondrial disorders[J]. Eur J Neu- rol, 2009, 16:1255-1264.
  • 2Zhao D, Hong D, Zhang W, et al. Mutations in mitochondrially encoded complex I enzyme as the second common cause in a co- hort of Chinese patients with MELAS [J]. J Hum Genet, 2011, 56:759-764.
  • 3Koopman W J, Willems PH, Smeitink JA. Mono- genic mitochondrial disorders [J]. N Engl J Med, 2012, 366: 1132-1141.
  • 4OzawaM, NonakaI, GotoY. Single muscle fiber analysis in patients with 3243 mutation in mitochondrial DNA: comparison with the phenotype and the proportion of mutant genome[J]. J Neurol Sci, 1998,159(2):170-175.
  • 5van den OuwelandJM, LemkesHH, RuitenbeekW, et al. Mutation in mitochondrial tRNA(Leu)(UUR)gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness[J]. Nat Genet, 1992,1(5):368-371. DOI: 10.1038/ng0892-368.
  • 6GotoY, NonakaI, HoraiS. A mutation in the tRNA(Leu)(UUR)gene associated with the MELAS subgroup of mitochondrial encephalomyopathies[J]. Nature, 1990,348(6302):651-653. DOI: 10.1038/348651a0.
  • 7MaassenJA, 'T HartLM, Van EssenE, et al. Mitochondrial diabetes: molecular mechanisms and clinical presentation[J]. Diabetes, 2004,53(Suppl 1):S103-S109.
  • 8TsaiK, WangSS, ChenTS, et al. Oxidative stress: an important phenomenon with pathogenetic significance in the progression of acute pancreatitis[J]. Gut, 1998,42(6):850-855.
  • 9KishnaniPS, Van HoveJL, ShoffnerJS, et al. Acute pancreatitis in an infant with lactic acidosis and a mutation at nucleotide 3243 in the mitochondrial DNA tRNALeu(UUR)gene[J]. Eur J Pediatr, 1996,155(10):898-903.
  • 10VernyC, Amati-BonneauP, LetournelF, et al. Mitochondrial DNA A3243G mutation involved in familial diabetes, chronic intestinal pseudo-obstruction and recurrent pancreatitis[J]. Diabetes Metab, 2008,34(6Pt 1):620-626. DOI: 10.1016/j.diabet.2008.06.001.

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中华神经科杂志
2010年 第5期

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