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Hereditäre Schwerhörigkeit

Teil 2: Syndromale Formen der Schwerhörigkeit

Hereditary hearing loss

Part 2: Syndromic forms of hearing loss

HNO volume 62, pages 759–770 (2014)Cite this article

Zusammenfassung

Die syndromalen Schwerhörigkeiten machen etwa 30 % der vererbbaren Schwerhörigkeiten aus. Sie sind klinisch durch die Beteiligung weiterer Organsysteme charakterisiert. Während bei einigen Formen Mutationen bestimmter Gene ursächlich sind, liegen bei anderen Formen z. T. assoziierte Symptome ohne einheitliche genetische Grundlage vor. Aufgabe des HNO-Arztes ist es, die klinische und genetische Diagnostik bei entsprechendem klinischem Verdacht zu veranlassen und die erforderliche Therapie der Schwerhörigkeit einzuleiten und durchzuführen.

Abstract

Syndromic hearing loss is responsible for approximately 30 % of cases of inherited hearing loss. The syndromic form can be differentiated from nonsyndromic hearing loss by the presence of associated symptoms in other organ systems. While for many forms of syndromic hearing loss the individual genes responsible have been identified, the etiology of other associated symptoms remains unclear. The role of the ENT physician is to select appropriate clinical and genetic diagnostic tools based on the presentation of the patient and to subsequently initiate and perform the required hearing loss therapy.

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Danksagung

Die Autoren möchten sich bei Fr. Daniela Beyer für ihre Unterstützung mit der Erstellung der Grafiken, bei Dr. Waldemar Würfel für das Review des Manuskripts und bei Prof. Dr. C. Framme für die Fundoskopiebildgebung bedanken.

Einhaltung ethischer Richtlinien

Interessenkonflikt. W.F. Burke, T. Lenarz und H. Maier geben an, dass kein Interessenkonflikt besteht. Dieser Beitrag beinhaltet keine Studien an Menschen oder Tieren.

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Affiliations

  1. Klinik für Otorhinolaryngologie, Medizinische Hochschule Hannover, Carl-Neuberg-Str. 1, 30625, Hannover, Deutschland

    W.F. Burke, T. Lenarz & H. Maier

  2. Cluster of Excellence Hearing4all, Hannover, Deutschland

    T. Lenarz & H. Maier

Authors
  1. W.F. Burke
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  2. T. Lenarz
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  3. H. Maier
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Corresponding author

Correspondence to W.F. Burke.

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Burke, W., Lenarz, T. & Maier, H. Hereditäre Schwerhörigkeit. HNO 62, 759–770 (2014). https://doi.org/10.1007/s00106-014-2901-x

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  • DOI: https://doi.org/10.1007/s00106-014-2901-x

Schlüsselwörter

  • Bilaterale Schwerhörigkeit
  • Schwannom
  • Genetische Schwerhörigkeit
  • Usher-Syndrom
  • Neurofibromatose 2

Keywords

  • Bilateral hearing loss
  • Schwannoma
  • Genetic hearing loss
  • Usher syndrome
  • Neurofibromatosis 2