Abstract
Hearing loss is a well-known clinical sign in the context of pendrin malfunction. Pendred syndrome (PS) and nonsyndromic hearing loss (DFNB4) with enlarged vestibular aqueduct (EVA) are two distinct, genetically determined clinical entities of which hearing loss is the main feature. Knowledge on clinical and genetic properties of both entities is constantly rising. In order to improve understanding of inner ear malfunction in connection with pendrin malfunction, we provide an overview on inner ear structure and function, with a clear focus on structures possibly affected in the setting of PS/DFNB4.
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References
Anthwal N, Thompson H (2016) The development of the mammalian outer and middle ear. J Anat 228:217–232. doi:10.1111/joa.12344
Arcand P, Desrosiers M, Dubé J, Abela A (1991) The large vestibular aqueduct syndrome and sensorineural hearing loss in the pediatric population. J Otolaryngol 20:247–250
Bast TH (1928) The utriculo‐endolymphatic valve. Anat Rec 40:61–65. doi:10.1002/ar.1090400106
Bast TH, Anson BJ (1949) The temporal bone and the ear. Charles C. Thomas Co., Springfield
Bianchi L, Fuchs P (2010) The Oxford handbook of auditory science. Oxford University Press, Oxford
Braun K, Zenner H-P, Friese N, Tropitzsch A (2015) Differential indication of active middle ear implants. HNO 63:402–418. doi:10.1007/s00106-015-0018-5
Burke WF, Lenarz T, Maier H (2014) Hereditary hearing loss. HNO 62:759–770. doi:10.1007/s00106-014-2901-x
Busi M, Rosignoli M, Castiglione A et al (2015) Cochlear implant outcomes and genetic mutations in children with ear and brain anomalies. Biomed Res Int 2015:696281–19. doi:10.1155/2015/696281
Centers for Disease Control and Prevention (CDC) (2009) Early hearing detection and intervention (EHDI) hearing screening & follow-up survey (revised November 2011)
Chattaraj P, Reimold FR, Muskett JA et al (2013) Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct. JAMA Otolaryngol Head Neck Surg 139:907–913. doi:10.1001/jamaoto.2013.4185
Choi BY, Kim H-M, Ito T et al (2011) Mouse model of enlarged vestibular aqueducts defines temporal requirement of Slc26a4 expression for hearing acquisition. J Clin Invest 121:4516–4525. doi:10.1172/JCI59353
Ciuman RR (2015) Middle ear drainage and ventilation: indications, complications and their treatment. Klin Padiatr 227:54–60. doi:10.1055/s-0034-1398537
Colquitt JL, Loveman E, Baguley DM et al (2011) Bone-anchored hearing aids for people with bilateral hearing impairment: a systematic review. Clin Otolaryngol 36:419–441. doi:10.1111/j.1749-4486.2011.02376.x
Everett LA, Belyantseva IA, Noben-Trauth K et al (2001) Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome. Hum Mol Genet 10:153–161
Goldfeld M, Glaser B, Nassir E et al (2005) CT of the ear in Pendred syndrome1. Radiology 235:537–540. doi:10.1148/radiol.2352031583
Griffith AJ, Arts HA, Downs C et al (1996) Familial large vestibular aqueduct syndrome. Laryngoscope 106:960–965. doi:10.1097/00005537-199608000-00009
Grimmer JF, Hedlund G (2007) Vestibular symptoms in children with enlarged vestibular aqueduct anomaly. Int J Pediatr Otorhinolaryngol 71:275–282. doi:10.1016/j.ijporl.2006.10.010
Gross M, Finchk-Krmer U, Spormann-Lagodzinski M (2000) Connatal hearing disorders in children. Part I: Connatally acquired hearing loss. HNO 12:879–886
Gulya AJ, Schuknecht HF (1995) Anatomy of the temporal bone with surgical implications. Parthenon Pub Group, New York
Ito T, Li X, Kurima K et al (2014) Slc26a4-insufficiency causes fluctuating hearing loss and stria vascularis dysfunction. Neurobiol Dis 66:53–65. doi:10.1016/j.nbd.2014.02.002
Kelley MW, Wu DK, Popper AN, Fay RR (2005) Development of the inner ear. doi:10.1007/0-387-30678-1
King KA, Choi BY, Zalewski C et al (2010) SLC26A4 genotype, but not cochlear radiologic structure, is correlated with hearing loss in ears with an enlarged vestibular aqueduct. Laryngoscope 120:384–389. doi:10.1002/lary.20722
Kozin ED, Lehmann A, Carter M et al (2014) Thermal effects of endoscopy in a human temporal bone model: implications for endoscopic ear surgery. Laryngoscope 124:E332–E339. doi:10.1002/lary.24666
Lavie L, Banai K, Attias J, Karni A (2014) Better together: reduced compliance after sequential versus simultaneous bilateral hearing aids fitting. Am J Audiol 23:93–98. doi:10.1044/1059-0889(2013/13-0010)
Lenarz T, Schwab B, Maier H, Kludt E (2014) Direct acoustic cochlear stimulation for therapy of severe to profound mixed hearing loss: Codacs™ Direct Acoustic Cochlear Implant System. HNO 62:481–489. doi:10.1007/s00106-014-2893-6
Merchant SN, Nakajima HH, Halpin C et al (2007) Clinical investigation and mechanism of air-bone gaps in large vestibular aqueduct syndrome. Ann Otol Rhinol Laryngol 116:532–541. doi:10.1177/000348940711600709
Muskett JA, Chattaraj P, Heneghan JF et al (2015) Atypical patterns of segregation of familial enlargement of the vestibular aqueduct. Laryngoscope. doi:10.1002/lary.25737
Noordman BJ, van Beeck Calkoen E, Witte B et al (2015) Prognostic factors for sudden drops in hearing level after minor head injury in patients with an enlarged vestibular aqueduct: a meta-analysis. Otol Neurotol 36:4–11. doi:10.1097/MAO.0000000000000659
Rah YC, Kim AR, Koo J-W et al (2014) Audiologic presentation of enlargement of the vestibular aqueduct according to the SLC26A4 genotypes. Laryngoscope 125:E216–E222. doi:10.1002/lary.25079
Richany SF, Bast TH, Anson BJ (1954) The development and adult structure of the malleus, incus and stapes. Ann Otol Rhinol Laryngol 63:394–434
Schmidt RF, Lang F, Heckmann M (2011) Physiologie des Menschen. doi:10.1007/978-3-642-01651-6
Sennaroglu L, Saatci I (2002) A new classification for cochleovestibular malformations. Laryngoscope 112:2230–2241. doi:10.1097/00005537-200212000-00019
Seo YJ, Kim J, Choi JY (2015) Correlation of vestibular aqueduct size with air-bone gap in enlarged vestibular aqueduct syndrome. Laryngoscope. doi:10.1002/lary.25664
Tóth M, Csillag A (2005) The organ of hearing and equilibrium. In: Csillag A (ed) Atlas of the sensory organs. Humana Press, Totowa, pp 1–83
Valvassori GE, Clemis JD (1978) The large vestibular aqueduct syndrome. Laryngoscope 88:723–728
Vijayasekaran S, Halsted MJ, Boston M et al (2007) When is the vestibular aqueduct enlarged? A statistical analysis of the normative distribution of vestibular aqueduct size. AJNR Am J Neuroradiol 28:1133–1138. doi:10.3174/ajnr.A0495
Voss SE, Nakajima HH, Huber AM, Shera CA (2013) Function and acoustics of the normal and diseased middle ear. In: Puria S, Fay RR, Popper AN (eds) The middle ear. Springer, New York, pp 67–91
Wullstein H (1960) Techniques of tympanoplasty I, II, and III. AMA Arch Otolaryngol 71:424–427. doi:10.1001/archotol.1960.03770030066014
Zalewski CK, Chien WW, King KA et al (2015) Vestibular dysfunction in patients with enlarged vestibular aqueduct. Otolaryngol Head Neck Surg 153:257–262. doi:10.1177/0194599815585098
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Roesch, S., Tóth, M., Rasp, G. (2017). Pendrin-Linked Deafness in Humans. In: Dossena, S., Paulmichl, M. (eds) The Role of Pendrin in Health and Disease. Springer, Cham. https://doi.org/10.1007/978-3-319-43287-8_4
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