Genetic disorders of transporters/channels in the inner ear and their relation to the kidney.
Inner ear physiology is reviewed with emphasis on features common to renal physiology. Genetic disorders in transporters/channels for chloride (ClC-K), bicarbonate (Cl(-)/HCO(3)(-) 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.
Peters
Theo A
TA
Department of Otorhinolaryngology, University Medical Center Nijmegen, Philips van Leydenlaan 15, 6525 EX Nijmegen, The Netherlands. t.peters@kno.umcn.nl.
Monnens
Leo A H
LA
Cremers
Cor W R J
CW
Curfs
Jo H A J
JH
D000818:Animals; D002648:Child; D007758:Ear, Inner / Q000033:anatomy & histology / Q000502:physiology; D006319:Hearing Loss, Sensorineural / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D007674:Kidney Diseases / Q000235:genetics* / Q000503:physiopathology; D007759:Labyrinth Diseases / Q000235:genetics* / Q000503:physiopathology; D026901:Membrane Transport Proteins / Q000502:physiology; D051379:Mice; D023421:Models, Animal
D026901:Membrane Transport Proteins