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LMNA基因R133L突变导致的一例青春期发病的全身脂肪萎缩 被引量：1

One case uf pubertal-onset generalized lipodystrophy caused by RI33L mutation uf LMNA gene
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摘要 脂肪萎缩（lipoatrophy）主要表现为皮下脂肪萎缩和脂肪组织异常分布，常伴有高胰岛素血症、胰岛素抵抗、糖耐量受损、血脂异常、脂肪肝等。
作者 朱亚丽 孙良阁 汪丽娟 万荔 任蕾 秦贵军
机构地区 郑州大学第一附属医院内分泌科
出处 《中华内分泌代谢杂志》 CAS CSCD 北大核心 2012年第6期519-521,共3页 Chinese Journal of Endocrinology and Metabolism
关键词 皮下脂肪萎缩 LMNA基因 青春期 全身 发病 突变 高胰岛素血症 胰岛素抵抗
分类号 R587 [医药卫生—内分泌]
  • 相关文献

参考文献17

  • 1Agarwal AK,Arioglu E,de Almeida S. AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34[J].Nature Genetics,2002.21-23.
  • 2Magre J,Delépine M,Khallouf E. Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13[J].Nature Genetics,2001.365-370.
  • 3Peters JM,Barnes R,Bennett L. Localization for the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21-22[J].Nature Genetics,1998.292-295.
  • 4Cao H,Hegele RA. Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy[J].Human Molecular Genetics,2000.109-112.
  • 5Lin F,Worman HJ. Structural organization of the human gene encoding nuclear lamin A and nuclear laminC[J].Journal of Biological Chemistry,1993.16321-16326.
  • 6Caux F,Dubosclard E,Lascols O. A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoauophy,insulin-resistant diabetes,disseminated leukomelanedermic papules,liver steatesis,and cardiomyopathy[J].Journal of Clinical Endocrinology and Metabolism,2003.1006-1013.
  • 7Mory PB,Crispim F,Kasamatsu T. Atypical generalized lipoatrophy and severe insulin resistance due to a heterozygous LMNA p.T101 mutation[J].Arg Bras Endocrinol Metabol,2008.1252-1256.
  • 8Doh YJ,Kim HK,Junq ED. Novel LMNA gene mutation in a patient with Atypical Wemer's Syndrome[J].Korean Journal of Internal Medicine,2009.68-72.
  • 9方福生,田慧,李春霖,邵迎红,李剑,钟文雯,刘敏燕,闫双通,杨光,成晓玲,马琴,王惠先.正常血糖-高胰岛素血症人群的临床特点和向糖尿病转变的趋向[J].中华内科杂志,2010,49(6):480-483. 被引量：17
  • 10Chen L,Lee L,Kudlow BA. LMNA mutations in atypical Wemer's syndrome[J].The Lancet,2003.440-445.

二级参考文献16

  • 1Fujii K,Abe I,Ohya Y,et al.Association between hyperinsulinemia and intima-media thickness of the carotid artery in normotensive men.J Hypertens,1997,15:167-172.
  • 2Pyorala M,Miettinen H,Laakso M,et al.Hyperinsulinemia predicts coronary heart disease risk in healthy middle-aged men:the 22-year follow-up results of the Helsinki Policemen Study.Circulation,1998,98:398-404.
  • 3Pyorala M,Miettinen H,Laakso M,et al.Hyperinsulinemia and the risk of stroke in healthy middle-aged men:the 22-year follow-up results of the Helsinki Policemen Study.Stroke,1998,29:1860-1866.
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  • 5World Health Organization.Definition,diagnosis and classification of diabetes mellitus and its complications:report of a WHO consultation.Part 1:Diagnosis and classification of diabetes mellitus.Geneva:World Health Organization,1999.
  • 6The IDF consensus worldwide definition of the metabolic syndrome[2010-03-01].http://www.idf.org/metabolic_syndrome.
  • 7Matthews DR,Hosker JP,Rudenski AS,et al.Homeostasis model assessment:insulin resistance and beta-cell function from fasting plasma glucose and insulin concentrations in man.Diabetologia,1985,28:412-419.
  • 8Kim SH,Reaven CM.Insulin resistance and hyperinsulinemia:you can't have one without the other.Diabetes Care,2008,31:1433-1438.
  • 9Shanik MH,Xu Y,Skrha J,et al.Insulin resistance and hyperinsulinemia:is hyperinsulinemia the cart or the horse?Diabetes Care,2008,31 Suppl 2:S262-268.
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共引文献16

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中华内分泌代谢杂志
2012年 第6期

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