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Genetic disorders of transporters/channels in the inner ear and their relation to the kidney

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Abstract

Inner ear physiology is reviewed with emphasis on features common to renal physiology. Genetic disorders in transporters/channels for chloride (ClC-K), bicarbonate (Cl-/HCO3- exchanger), protons (H+-ATPase), sodium (ENaC, NKKC1, NBC3, NHE3), potassium (KCNQ1/KCNE1, Kcc4), and water (AQP4) in the inner ear and their relation to the kidney are discussed. Based on data from human disorders (with or without mouse counterparts) and mouse models (without human counterparts) this article focuses on the involvement of these transporters/channels in hearing loss.

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Authors and Affiliations

  1. Department of Otorhinolaryngology, University Medical Center Nijmegen, Philips van Leydenlaan 15, 6525 EX Nijmegen, The Netherlands

    Theo A. Peters, Cor W. R. J. Cremers & Jo H. A. J. Curfs

  2. Department of Pediatric Nephrology, University Medical Center Nijmegen, Philips van Leydenlaan 15, 6525 EX Nijmegen, The Netherlands

    Leo A. H. Monnens

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  1. Theo A. Peters
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  2. Leo A. H. Monnens
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Correspondence to Theo A. Peters.

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Peters, T.A., Monnens, L.A.H., Cremers, C.W.R.J. et al. Genetic disorders of transporters/channels in the inner ear and their relation to the kidney. Pediatr Nephrol 19, 1194–1201 (2004). https://doi.org/10.1007/s00467-004-1626-6

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  • DOI: https://doi.org/10.1007/s00467-004-1626-6

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