No evidence of hearing loss in pseudohypoaldosteronism type 1 patients

Acta Oto-laryngologica
Theo A PetersLeo A H Monnens

Abstract

The fact that pseudohypoaldosteronism type 1 (PHA-1) patients with a defect in the alpha subunit of epithelial sodium channels (ENaC) in the cochlea have normal hearing suggests compensation by alternative sodium transport mechanisms. Consequently, hearing loss due to defective cochlear transmembrane serine protease TMPRSS3 activity is likely to be related to its effect on proneurotrophin cleavage, indicating an action on neurological components of hearing. The normal hearing of PHA-1 patients with affected mineralocorticoid receptors, together with experimental results in animals, indicates that the mineralocorticoid aldosterone is not the most crucial regulator of sodium transport in the cochlea. Profound hearing loss has been observed in patients with a defect in transmembrane serine protease TMPRSS3, the presumed activator of ENaCs. Renal ENaCs and their regulators, such as the mineralocorticoid receptors, are present in the cochlear structures involved in hearing. The aim of this study was to investigate whether PHA-1 patients with defects in these channels or regulators suffer from hearing impairment. Pure-tone audiometry was performed in four cases with PHA-1 due to mutations in alphaENaC (n=2) or mineralocorticoid recep...Continue Reading

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Citations

Jul 26, 2011·Journal of the Association for Research in Otolaryngology : JARO·Nicole J D WeegerinkHenricus P M Kunst
Jan 27, 2012·American Journal of Physiology. Cell Physiology·Yawar J QadriCatherine M Fuller
Feb 21, 2018·Cell and Tissue Research·Wei LiuHelge Rask-Andersen
Mar 21, 2020·Biochemical Society Transactions·Roman Szabo, Thomas H Bugge
Aug 24, 2021·Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine·Richard J Epstein

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