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Wolcott-Rallison综合征的遗传发病机制及诊疗进展 被引量：1

Wolcott-Rallison syndrome:Genetic pathogenesis and advance in diagnosis and treatment
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摘要 Wolcott-Rallison综合征(WRS)以永久性新生儿糖尿病、多发性骨骺发育不良为主要临床表现,致病基因为编码真核生物翻译起始因子2a激酶3的基因。WRS综合征发病率极低,预后欠佳,患儿多于幼年死亡。本文就WRS综合征的遗传发病机制及诊疗进展进行综述,以提高临床医师对本病的认识。 Wolcott-Rallison syndrome is associated with permanent skeletal dysplasia and caused by mutations in the gene encoding eukaryotic neonatal diabetes mellitus and translation initiation factor 2a kinase 3 （EIF2AK3）. Prognosis is poor and most patients die at a young age. The article aims at enhancing the consciousness of clinical doctors on finding WRS and improving the prognosis of such patients.
作者 杨文利 桑艳梅
机构地区 北京儿童医院内分泌及遗传代谢中心
出处 《中国糖尿病杂志》 CAS CSCD 北大核心 2014年第5期469-470,共2页 Chinese Journal of Diabetes
基金 北京市卫生系统高层次卫生技术人才培养计划(2011-3-051)
关键词 Wolcott-Rallison综合征 真核翻译始动因子2α激酶3基因 多发性骨骺发育不良 EIF2AK3 Wolcott-Rallison syndrome EIF2AK3 Multiple epiphyseal dysplasia
分类号 R725.8 [医药卫生—儿科]
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参考文献11

  • 1Wolcott CD, Rallison ML. Infancy-onset diabetes mellitus and multiple epiphyseal dysplasia. J Pediatr, 1972,80 : 292-297.
  • 2Rubio-Cabezas O, Patch AM, Minton JA, et al. Wolcott Rallison syndrome is the most common genetic cause of permanent neo- natal diabetes in consanguineous families. J Clin Endocrinol Metab, 2009 , 9 4 : 4152-4170.
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  • 4丰岱荣,孟岩,赵时敏,施惠平,王炜辰,黄尚志.Wolcott—Rallison综合征一例报告及其EIF2AK3基因突变检测[J].中华儿科杂志,2011,49(4):301-305. 被引量：3
  • 5Delepine M, Nicolino M, Barrett T, et al. EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in pa tients with Wolcott-Rallison syndrome. Nat Genet, 2000, 25: 406-409.
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二级参考文献9

  • 1Wolcott CD,Rallison ML.Infancy-onset diabetes mellitus and multiple epiphyseal dysplasia.J Pediatr,1972,80:292-297.
  • 2Delépine M,Nicolino M,Barrett T,et al.EIF2AK3,encoding translation initiation factor 2-alpha kinase 3,is mutated in patients with Wolcott-Rallison syndrome.Nat Genet,2000,25:406-409.
  • 3Zhang P,McGrath B,Li S,et al.The PERK eukaryotic initiation factor 2 alpha kinase is required for the development of the skeletal system,postnatal growth,and the function and viability of the pancreas.Mol Cell Biol,2002,22:3864-3874.
  • 4The human gene mutation database at the institute of medical genetics in Cardiff[DB/OL].(2010-04)[2010-06-16].http://www.hgmd.cf.ac.uk/sc/index.php.
  • 5Senee V,Vattem KM,Delepine M,et al.Wolcott-Rallison syndrome:clinical,genetic,and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity.Diabetes,2004,53:1876-1883.
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  • 7Eizirik DL,Cardozo AK,Cnop M.The role for endoplasmic reticulum stress in diabetes mellitus.Endocr Rev,2008,29:42-61.
  • 8Brickwood S,Bonthron DT,A1-Gazali LI,et al.Wolcott-Rallison syndrome:pathogenic insights into neonatal diabetes from new mutation and expression studies of EIF2AK3.J Med Genet,2003,40:685-689.
  • 9Biason-Lauber A,Lang-Muritano M,Vaccaro T,et al.Loss of kinase activity in a patient with Wolcott-Rallison syndrome caused by a novel mutation in the EIF2AK3 gene.Diabetes,2002,51:2301-2305.

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中国糖尿病杂志
2014年 第5期

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