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肥胖-视网膜变性-糖尿病综合征1例报告及文献复习 被引量:1

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摘要 Alstrm综合征又称肥胖-视网膜变性-糖尿病综合征,1956年由Alstrm首先报告[1],60余年来,全球范围内公开报道的仅有200余例,我国仅有10例报告(包括我单位曾报告的1例)[2-9]。现报告我单位近年诊治的1例Alstrm综合征,并结合既往文献分析Alstrm综合征的临床特征,以期为这种罕见疾病的诊治提供帮助。
出处 《中国实用内科杂志》 CAS CSCD 北大核心 2014年第S1期155-157,共3页 Chinese Journal of Practical Internal Medicine
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参考文献9

  • 1栾云,焦铁健,刘坤.Alstrom综合征1例[J].中国当代儿科杂志,2007,9(4):369-370. 被引量:4
  • 2白然,王浩,杨郁,巴颖,杜建玲,李昌臣.Alstrm综合征一例[J].中华内分泌代谢杂志,2006,22(1):93-93. 被引量:6
  • 3李德天,王艳秋,李玲,杨旭.Alstrom综合征一例[J].中华内科杂志,2004,43(9):650-650. 被引量:9
  • 4李梅,夏维波,金自孟,施惠平,孟迅吾,邢小平.Alstrom综合征一例[J].中华儿科杂志,2004,42(6):471-471. 被引量:9
  • 5F. Schmidt,T. Kapellen,S. Wiegand,A. Herbst,J. Wolf,E. Fr?hlich-Reiterer,W. Rabl,T. Rohrer,R. Holl.Diabetes Mellitus in Children and Adolescents with Genetic Syndromes[J].Exp Clin Endocrinol Diabetes.2012(10)
  • 6Déborah Heydet,Lesley X. Chen,Claire Z. Larter,Chrystal Inglis,Michael A. Silverman,Geoffrey C. Farrell,Michel R. Leroux.A truncating mutation of Alms1 reduces the number of hypothalamic neuronal cilia in obese mice[J].Devel Neurobio.2012(1)
  • 7K. Aliferis,S. Hellé,G. Gyapay,S. Duchatelet,C. Stoetzel,J.-L. Mandel,H. Dollfus.Differentiating Alstr?m from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing[J].Ophthalmic Genetics.2012(1)
  • 8S.K. Sinha ,,A. Bhangoo ,,H. Anhalt ,,Ν. Maclaren ,,J.D. Marshall ,,G.B. Collin ,,J.K. Naggert ,,S. Ten ,.Effect of Metformin and Rosiglitazone in a Prepubertal Boy with Alstr?m Syndrome[J].Journal of Pediatric Endocrinology and Metabolism.2007(9)
  • 9G.B. Collin,J.D. Marshall,C.F. Boerkoel,A.V. Levin,R. Weksberg,J. Greenberg,J.L. Michaud,J.K. Naggert,P.M. Nishina.Alstr?m syndrome: further evidence for linkage to human chromosome 2p13[J].Human Genetics.1999(5)

二级参考文献13

  • 1李梅,夏维波,金自孟,施惠平,孟迅吾,邢小平.Alstrom综合征一例[J].中华儿科杂志,2004,42(6):471-471. 被引量:9
  • 2李德天,王艳秋,李玲,杨旭.Alstrom综合征一例[J].中华内科杂志,2004,43(9):650-650. 被引量:9
  • 3Collin GB, Marshall JD, Ikeda A,et al. Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome.Nat Genet,2002;31:74-78.
  • 4Marshall JD, Ludman MD, Shea SE, et al. Genealogy, natural history, and phenotype of Alstrom syndrome in a large Acadian kindred and three additional families. Am J Med Genet,1997,73:150-161.
  • 5Satman I, Yilmaz MT, Gursoy N,et al. Evaluation of insulin resistant diabetes mellitus in Alstrom syndrome: a long-term prospective follow-up of three siblings. Diabetes Res Clin Pract,2002,56:189-196.
  • 6Alstrom CH,Hallgren B,Nilsson LB,et al.Retinal degeneration combined with obesity,diabetes mellitus and neurogenous deafness:a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome:a clinical,endocrinological and
  • 7Maffei P,Munno V,Marshall JD,et al.The Alstrom syndrome:is it a rare or unknown disease?Ann Ital Med Int,2002,17:221-228.
  • 8Collin GB,Marshall JD,Boerkoel CF,et al.Alstrom syndrome:further evidence for linkage to huamn chromosome 2p13.Hum Genet,1999,105:474-479.
  • 9Collin GB,Marshall JD,Ikeda A,et al.Mutations in ALMSI cause obesity,type 2 diabetes and neurosensory degeneration in Alstrom syndrome.Nat Genet,2002,31:74-78.
  • 10Hearn T,Spslluto C,Phillips VJ,Renforth GL,Copin N,Hanley NA,et al.Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity,insulin resistance,and type 2 diabetes[J].Diabetes,2005,54(5):1581-1587.

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