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.
This is a preview of subscription content, log in via an institution to check access.
Literatur
Burke WF, Lenarz T, Maier H (2013) Hereditary hearing loss: part 1: diagnostic overview and practical advice. HNO 61:353–363
Matsunaga T (2009) Value of genetic testing in the otological approach for sensorineural hearing loss. Keio J Med 58:216–222
Toriello HV, Smith SD (2013) Hereditary hearing loss and its syndromes, 3. Aufl. Oxford University Press, New York
Rodriguez-Ballesteros M, Castillo FJ del, Martin Y et al (2003) Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF). Hum Mutat 22:451–456
Ito T, Choi BY, King KA et al (2011) SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct. Cell Physiol Biochem 28:545–552
Hanson H, Storey H, Pagan J et al (2011) The value of clinical criteria in identifying patients with X-linked alport syndrome. Clin J Am Soc Nephrol 6:198–203
Friedman TB, Schultz JM, Ahmed ZM et al (2011) Usher syndrome: hearing loss with vision loss. Adv Otorhinolaryngol 70:56–65
Bonnet C, El-Amraoui A (2012) Usher syndrome (sensorineural deafness and retinitis pigmentosa): pathogenesis, molecular diagnosis and therapeutic approaches. Curr Opin Neurol 25:42–49
Welsh LW (2007) Alstrom syndrome: progressive deafness and blindness. Ann Otol Rhinol Laryngol 116:281–285
Marshall JD, Maffei P, Beck S et al (2013) Clinical utility gene card for: Alstrom syndrome – update 2013. Eur J Hum Genet 21: Doi 10.1038/ejhg.2013.61 (Epub 2013 Apr 24)
**ault V, Ente D, Dastot-Le Moal F et al (2010) Review and update of mutations causing Waardenburg syndrome. Hum Mutat 31:391–406
Cohen M Jr, Richieri-Costa A, Guion-Almeida ML et al (1995) Hypertelorism: interorbital growth, measurements, and pathogenetic considerations. Int J Oral Maxillofac Surg 24:387–395
Couchouron T, Masson C (2011) Early-onset progressive osteoarthritis with hereditary progressive ophtalmopathy or Stickler syndrome. Joint Bone Spine 78:45–49
Evans GR, Lloyd SK, Ramsden RT (2011) Neurofibromatosis Type 2. Adv Otorhinolaryngol 70:91–98
Kochhar A, Fischer SM, Kimberling WJ et al (2007) Branchio-oto-renal syndrome. Am J Med Genet A 143A:1671–1678
Smith RJH, Shearer AE, Hildebrand MS et al (1993) Deafness and hereditary hearing loss overview. In: Pagon RA, Bird TD, Dolan CR et al (Hrsg) GeneReviews. University of Washington, Seattle
Zhao FF, Lan L, Wang DY et al (2013) Correlation analysis of genotypes, auditory function, and vestibular size in Chinese children with enlarged vestibular aqueduct syndrome. Acta Otolaryngol 133:1242–1249
Ito T, Li X, Kurima K et al (2014) Slc26a4-insufficiency causes fluctuating hearing loss and stria vascularis dysfunction. Neurobiol Dis 66:53–65
Bizhanova A, Kopp P (2010) Genetics and phenomics of Pendred syndrome. Mol Cell Endocrinol 322:83–90
Jackler RK, De La Cruz A (1989) The large vestibular aqueduct syndrome. Laryngoscope 99:1238–1242 (discussion 1242–1243)
Colvin IB, Beale T, Harrop-Griffiths K (2006) Long-term follow-up of hearing loss in children and young adults with enlarged vestibular aqueducts: relationship to radiologic findings and Pendred syndrome diagnosis. Laryngoscope 116:2027–2036
Broomfield SJ, Bruce IA, Henderson L et al (2012) Cochlear implantation in children with Jervell and Lange-Nielsen syndrome – a cautionary tale. Cochlear Implants Int 13:168–172
Winbo A, Stattin EL, Diamant UB et al (2012) Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden. Europace 14:1799–1806
Tranebjaerg L, Samson RA, Green GE (2002) Jervell and Lange-Nielsen syndrome. In: Pagon RA, Adam MP, Bird TD et al (Hrsg) GeneReviews, 1993–2013. http://www.ncbi.nlm.nih.gov/books/NBK1405/. University of Washington, Seattle (Updated 2012 Oct 4). Zugegriffen: 15. Juli 2014
Bitner-Glindzicz M, Tranebjaerg L (2000) The Jervell and Lange-Nielsen syndrome. Adv Otorhinolaryngol 56:45–52
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.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Burke, W., Lenarz, T. & Maier, H. Hereditäre Schwerhörigkeit. HNO 62, 759–770 (2014). https://doi.org/10.1007/s00106-014-2901-x
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00106-014-2901-x