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Hereditäre Schwerhörigkeit

Teil 1: Überblick und praktische Hinweise zur Diagnostik

Hereditary hearing loss

Part 1: Diagnostic overview and practical advice

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Zusammenfassung

Schwerhörigkeit ist der häufigste angeborene sensorische Defekt des Menschen. Es wird geschätzt, dass zwischen 1 und 5 von 1000 geborenen Kindern eine Hörminderung von mindestens 40 dB aufweisen. Unbehandelte Taubheit hat enorme ökonomische Folgen für die Individuen und die Gesellschaft. Bei 50–70 % der angeborenen Schwerhörigkeiten wird eine genetische Ursache vermutet. Bis dato sind über 130 Loci, die verschiedene Schwerhörigkeitsformen verursachen, beschrieben worden. Einige Loci enthalten mehr als ein Gen, und an manchen Loci sind die Gene noch nicht identifiziert worden. Die vorliegende Arbeit soll den komplexen Hintergrund der genetischen Einflüsse der Schwerhörigkeit erhellen und dem Kliniker dabei helfen, die angemessene Entscheidung bezüglich der geeigneten genetischen Untersuchung betroffener Patienten zu treffen. Der 1. Teil befasst sich mit den nichtsyndromalen Hörverlusten, während sich der 2. Teil mit den häufigsten syndromalen Hörverlusten befassen wird.

Abstract

Hearing loss is the most frequently occurring congenital sensory defect in humans. It is believed that between one and five of every 1000 children born suffers from hearing loss of at least 40 dB. The economic consequences of deafness are staggering and affect not only the individual patient but also society as a whole. A genetic cause is suspected in 50 %–70 % of cases of congenital hearing loss. To date over 130 loci have been associated with genetic hearing loss, with some loci containing more than one gene and others containing as yet unidentified genes. The present article is intended to provide some insight into the complex background issues involved and offer guidance on appropriate decision-making with regard to genetic testing in affected patients. Part 1 is concerned with non-syndromic hearing loss, while part 2 deals with syndromic hearing loss.

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Danksagung

Die Autoren möchten Frau Daniela Beyer für ihre Hilfe bei der Herstellung der Graphiken sowie Prof. Dr. med. Manfred Stuhrmann-Spangenberg für das Lesen und seine wertvollen Hinweise zu diesem Manuskript danken.

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Authors and Affiliations

  1. Klinik für Hals-Nasen-Ohren-Heilkunde, Medizinische Hochschule Hannover, Carl-Neuberg-Str. 1, 30625, Hannover, Deutschland

    W.F. Burke, T. Lenarz & H. Maier

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  1. W.F. Burke
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  2. T. Lenarz
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  3. H. Maier
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Correspondence to W.F. Burke.

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Burke, W., Lenarz, T. & Maier, H. Hereditäre Schwerhörigkeit. HNO 61, 353–363 (2013). https://doi.org/10.1007/s00106-013-2689-0

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  • DOI: https://doi.org/10.1007/s00106-013-2689-0

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