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Hereditäre sensorineurale Schwerhörigkeit und Makrothrombozytopenie

Eine seltene Mutation des MYH9-Gens

Hereditary sensorineural hearing impairment and macrothrombocytopenia

A rare MYH9 gene mutation

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Zusammenfassung

Wir beschreiben den seltenen Fall einer 23-jährigen Patientin mit einer Mutation im Exon 16 des MYH9-Gens. Dieses Gen codiert für das nichtmuskuläre Myosin IIA, was in vielen verschiedenen Zelltypen als zytoskelettales, kontraktiles Protein agiert. Diese Veränderung führte zu einer sensorineuralen Schwerhörigkeit, Makrothrombozytopenie und Proteinurie. Bei MYH9-Mutationen können zudem diverse Organmanifestationen wie präsenile Katarakt und Niereninsuffizienz vorliegen, welche im Alter progredient erscheinen. Bei derzeit fehlender kausaler Therapie zeigen wir die notwendigen Diagnostikschritte, Empfehlungen für Kontrolluntersuchungen und symptomatische Therapieansätze auf.

Abstract

We report on a rare case of an exon 16 mutation of the MYH9 gene in a 23-year-old woman. This gene encodes for non-muscular myosin IIA, which acts as a cytoskeletal contractile protein in diverse cell types. This disorder led to sensorineural hearing loss, macrothrombocytopenia, and proteinuria. MYH9 gene mutation can lead to diverse organ manifestation like pre-senile cataract or renal failure which are progressive in course. Due to the current lack of causal treatment, diagnostic steps, advice for follow-up examinations and symptomatic therapy approaches are presented.

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Interessenkonflikt

R. Knecht ist Mitglied von Advisory Boards für Merck Serono, Sanofi Aventis, Boehringer Ingelheim und Bayer HealthCare Leverkusen. Der korrespondierende Autor gibt für sich und die übrigen Koautoren an, dass kein Interessenkonflikt besteht.

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Authors and Affiliations

  1. Klinik und Poliklinik für Hals-, Nasen- und Ohrenheilkunde, Kopf- und Neurozentrum, Universitätsklinikum Hamburg-Eppendorf, Martinistr. 52, 20246, Hamburg, Deutschland

    A. Böttcher, R. Knecht, C.-J. Busch, B. B. Lörincz & C. V. Dalchow

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  1. A. Böttcher
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  2. R. Knecht
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  3. C.-J. Busch
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  4. B. B. Lörincz
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  5. C. V. Dalchow
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Correspondence to A. Böttcher.

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Böttcher, A., Knecht, R., Busch, CJ. et al. Hereditäre sensorineurale Schwerhörigkeit und Makrothrombozytopenie. HNO 61, 159–165 (2013). https://doi.org/10.1007/s00106-012-2521-2

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  • DOI: https://doi.org/10.1007/s00106-012-2521-2

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