Diabetes Research and Clinical Practice
Volume 56, Issue 3 , Pages 189-196 , June 2002

Evaluation of insulin resistant diabetes mellitus in Alström syndrome: a long-term prospective follow-up of three siblings

  • I Satman

      Affiliations

    • Istanbul Faculty of Medicine, Department of Internal Medicine, Division of Diabetes, Istanbul University, Millet Caddesi, P.K. 75, Çapa, 34 272 Istanbul, Turkey
    • Corresponding Author InformationCorresponding author. Tel.: +90-212-533-5306; fax: +90-212-635-8876
    • ,
  • M.T Yılmaz

      Affiliations

    • Istanbul Faculty of Medicine, Department of Internal Medicine, Division of Diabetes, Istanbul University, Millet Caddesi, P.K. 75, Çapa, 34 272 Istanbul, Turkey
    • ,
  • N Gürsoy

      Affiliations

    • Istanbul Faculty of Medicine, Department of Internal Medicine, Division of Diabetes, Istanbul University, Millet Caddesi, P.K. 75, Çapa, 34 272 Istanbul, Turkey
    • ,
  • K Karşıdağ

      Affiliations

    • Istanbul Faculty of Medicine, Department of Internal Medicine, Division of Diabetes, Istanbul University, Millet Caddesi, P.K. 75, Çapa, 34 272 Istanbul, Turkey
    • ,
  • N Dinççağ

      Affiliations

    • Istanbul Faculty of Medicine, Department of Internal Medicine, Division of Diabetes, Istanbul University, Millet Caddesi, P.K. 75, Çapa, 34 272 Istanbul, Turkey
    • ,
  • T Ovalı

      Affiliations

    • Istanbul Faculty of Medicine, Department of Ophthalmology, Istanbul University, Istanbul, Turkey
    • ,
  • Ş Karadeniz

      Affiliations

    • Institute for Experimental Medicine, Diabetes Research and Application Unit, Istanbul, Turkey
    • ,
  • V Uysal

      Affiliations

    • Istanbul Faculty of Medicine, Department of Pathology, Istanbul University, Istanbul, Turkey
    • ,
  • Z Buğra

      Affiliations

    • Istanbul Faculty of Medicine, Department of Cardiology, Istanbul University, Istanbul, Turkey
    • ,
  • A Ökten

      Affiliations

    • Istanbul Faculty of Medicine, Department of Gastroenterology, Istanbul University, Istanbul, Turkey
    • ,
  • S Devrim

      Affiliations

    • Istanbul Faculty of Medicine, Department of Internal Medicine, Division of Diabetes, Istanbul University, Millet Caddesi, P.K. 75, Çapa, 34 272 Istanbul, Turkey

Received 16 July 2001 ,Revised 24 November 2001 ,Accepted 20 December 2001.

References 

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  2. Weinstein RB, Kliman B, Seuly RE. Familial syndrome of primary testicular insufficiency with normal virilization, blindness, deafness, and metabolic abnormalities. N. Engl. J. Med. 1969;281:969–977
  3. In:  Konigsmark BW,  Gorlin RJ editor. Genetic and Metabolic Deafness. Philadelphia: W.B. Saunders Co; 1976;p. 78–81
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  8. Awazu M, Tanaka T, Sato S, Anzo M, Higuchi M, Yamazaki K, et al. Hepatic dysfunction in two sibs with Alstrom syndrome: case report and review of the literature. Am. J. Med. Genet. 1997;69:13–16
  9. Rudiger HW, Ahrens P, Dreyer M, Frorath B, Loffel C, Schmidt-Preuss U. Impaired insulin-induced RNA synthesis secondary to a genetically defective insulin receptor. Hum. Genet. 1985;69:76–78
  10. Mc Kusick VA. Mendelian Inheritance in Man. 10th edition. Baltimore and London: John Hopkins University Press; 1994;
  11. Holder M, Hecker W, Gill G. Impaired glucose tolerance leads to delayed diagnosis of Alström syndrome. Diabetes Care. 1995;18:698–700
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  15. M.T. Yılmaz, I. Satman, A. Çubukçu, T. Ovalı, Y. Songür, A.S. Büyükdevrim, Retinitis pigmentosa, obesite, boy kısalığı, diabetes mellitus ve nefropati ile karakterize, ilginç HLA bulgulari gösteren bir aile örneği, in: A.S. Büyükdevrim (eds.), Istanbul Üniversitesi Istanbul Tıp Fakültesi 10. Kurultayı, 18–22 Eylül 1989 Istanbul, 1994, pp. 643–650.
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  18. Dryja TP, Hahn LB, Cowley GS, McGee TL, Berson EL. Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa. Proc. Natl. Acad. Sci. USA. 1991;88:9370–9374
  19. Kajiwara K, Hahn LB, Mukai S, Travis GH, Berson EL, Dryja TP. Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Nature. 1991;354:480–482
  20. Weiss E. Cerebral adiposity with nerve deafness, mental deficiency, and genital dystrophy: a variant of the Laurence-Biedl syndrome. Am. J. Med. Sci. 1932;183:268–272
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  22. Cassidy SB, Bryne-Essif K, Cross HE. Pigmentary retinopathy, sensorineural deafness, mental retardation, obesity, hypogonadism, and acanthosis nigricans: a new syndrome in the diffrential of Usher syndrome. Am. J. Hum. Genet. 1990;47:A50
  23. Budden SS, Kennaway NG, Buist NRM, Poulos A, Weleber RG. Dysmorfic syndrome with phytanic oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia; studies in four children. J. Pediatr. 1986;108:33–39
  24. Russell-Eggitt IM, Clayton PT, Coffey R, Kriss A, Taylor DS, Taylor JF. Alstrom syndrome. Report of 22 cases and literature review. Ophthalmology. 1998;105:1274–1280

PII: S0168-8227(02)00004-9

Diabetes Research and Clinical Practice
Volume 56, Issue 3 , Pages 189-196 , June 2002

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