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Alström-Syndrom — eine seltene Erkrankung aus dem diabetischen Formenkreis

Alström — A rare condition associated with diabetes

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Zusammenfassung

Hintergrund

Beim Alström-Syndrom handelt es sich um eine seltene hereditäre Multisystemerkrankung, bei der ein „Second-messenger”-Defekt anzunehmen ist.

Fallbeschreibung

Der hier beschriebene Fall — der erste in Deutschland von 15 in der Weltliteratur bekannten Fällen — ist von allen beschriebenen klinischen Symptomen betroffen: nicht insulinpflichtiger Diabetes mellitus, Retinitis pigmentosa, pancochleäre Schwerhörigkeit, Hypogonadismus, Adipositas und chronische Nephropathie, mit der Ausnahme des fakultativen Symptoms einer Acanthosis nigricans.

Schlußfolgerung

Aufgrund der Vielfalt der betroffenen Organe ist die Diagnosestellung eines Alström-Syndroms schwierig.

Summary

Background

Alström’s disease is a rare hereditary multiple-system illness, whereas a second- messenger defect can be assumed.

Case Report

We describe a case — the first in Germany of 15 known cases in the world literature-, who suffers from all clinical features, such as non-insulin-dependent diabetes mellitus, retinitis pigmentosa, pancochlear damage of the ears, hypogonadism, obesity and chronic nephropathy, with the exception of acanthosis nigricans.

Conclusion

Because of the multiplicity of affected organs the diagnosis of Alström’s disease is difficult.

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Authors and Affiliations

  1. III. Medizinische Abteilung (Endokrinologie und Diabetologie) des Städtischen Krankenhauses München-Schwabing und Forschergruppe Diabetes, München, Deutschland

    Johannes Stemplinger, Anette -Gabriele Ziegler & Eberhard Standl

  2. Kinderklinik der Technischen Universität München, München, Deutschland

    Wolfgang Rabl

  3. Angiologische Abteilung, Städtisches Krankenhaus München-Schwabing, Kölner Platz 1, D-80804, München, Deutschland

    Brigitte Weichenhain & Hubert Stiegler

Authors
  1. Brigitte Weichenhain
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  2. Johannes Stemplinger
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  3. Anette -Gabriele Ziegler
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  4. Wolfgang Rabl
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  5. Eberhard Standl
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  6. Hubert Stiegler
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Weichenhain, B., Stemplinger, J., Ziegler, A.G. et al. Alström-Syndrom — eine seltene Erkrankung aus dem diabetischen Formenkreis. Med Klin 92, 175–178 (1997). https://doi.org/10.1007/BF03043276

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  • DOI: https://doi.org/10.1007/BF03043276

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