Investigation of Vestibular Function in Adult Patients with Gitelman Syndrome: Results of an Observational Study
Gitelman syndrome (GS) is a rare salt-losing tubulopathy caused by an inactivating mutation in the <i>SLC12A3</i> gene, encoding the thiazide-sensitive sodium chloride cotransporter (NCC). Patients with GS frequently complain of vertigo, usually attributed to hypovolemia. Because NCC is...
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doaj-04c597534db54fe0b6f175a904b66b1b2020-11-25T04:10:36ZengMDPI AGJournal of Clinical Medicine2077-03832020-11-0193790379010.3390/jcm9113790Investigation of Vestibular Function in Adult Patients with Gitelman Syndrome: Results of an Observational StudyMihaela Alexandru0Marie Courbebaisse1Christine Le Pajolec2Adeline Ménage3Jean-François Papon4Rosa Vargas-Poussou5Jérôme Nevoux6Anne Blanchard7AP-HP, Université Paris Saclay, Hôpital Bicêtre, Service d’Oto-Rhino-Laryngologie, 94270 Le Kremlin-Bicêtre, FranceAP-HP, Centre—Université de Paris, Hôpital Européen Georges-Pompidou, Service de Physiologie-Exploration Fonctionnelles Rénales, 75015 Paris, FranceAP-HP, Université Paris Saclay, Hôpital Bicêtre, Service d’Oto-Rhino-Laryngologie, 94270 Le Kremlin-Bicêtre, FranceAP-HP, Université Paris Saclay, Hôpital Bicêtre, Service d’Oto-Rhino-Laryngologie, 94270 Le Kremlin-Bicêtre, FranceAP-HP, Université Paris Saclay, Hôpital Bicêtre, Service d’Oto-Rhino-Laryngologie, 94270 Le Kremlin-Bicêtre, FranceAP-HP, Centre—Université de Paris, Hôpital Européen Georges-Pompidou, Département de Génétique et Biologie Moléculaire, 75015 Paris, FranceAP-HP, Université Paris Saclay, Hôpital Bicêtre, Service d’Oto-Rhino-Laryngologie, 94270 Le Kremlin-Bicêtre, FranceFaculté de Médecine Paris Descartes, Université de Paris, 75006 Paris, FranceGitelman syndrome (GS) is a rare salt-losing tubulopathy caused by an inactivating mutation in the <i>SLC12A3</i> gene, encoding the thiazide-sensitive sodium chloride cotransporter (NCC). Patients with GS frequently complain of vertigo, usually attributed to hypovolemia. Because NCC is also located in the endolymphatic sac, we hypothesized that patients with GS might have vestibular dysfunction. Between April 2013 and September 2016, 20 (22%) out of 90 patients followed at the reference center complained of vertigo in the absence of orthostatic hypotension. Sixteen of them were referred to an otology department for investigation of vestibular function. The vertigo was of short duration and triggered in half of them by head rotation. Seven patients (44%) had a vestibular syndrome. Vestibular syndrome was defined: (1) clinically, as nystagmus triggered by the head shaking test (<i>n</i> = 5); and/or (2) paraclinically, as an abnormal video head impulse test (<i>n</i> = 0), abnormal kinetic test (<i>n</i> = 4) and/or abnormal bithermal caloric test (<i>n</i> = 3). Five patients had associated auditory signs (tinnitus, aural fullness or hearing loss). In conclusion, we found a high frequency of vestibular disorder in GS patients suffering from vertigo, suggesting a role of NCC in the inner ear. Referent physicians of these patients should be aware of this extrarenal manifestation that requires specific investigations and treatment.https://www.mdpi.com/2077-0383/9/11/3790Gitelman syndromevertigoSLC12A3NCCendolymphatic sacinner ear |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Mihaela Alexandru Marie Courbebaisse Christine Le Pajolec Adeline Ménage Jean-François Papon Rosa Vargas-Poussou Jérôme Nevoux Anne Blanchard |
spellingShingle |
Mihaela Alexandru Marie Courbebaisse Christine Le Pajolec Adeline Ménage Jean-François Papon Rosa Vargas-Poussou Jérôme Nevoux Anne Blanchard Investigation of Vestibular Function in Adult Patients with Gitelman Syndrome: Results of an Observational Study Journal of Clinical Medicine Gitelman syndrome vertigo SLC12A3 NCC endolymphatic sac inner ear |
author_facet |
Mihaela Alexandru Marie Courbebaisse Christine Le Pajolec Adeline Ménage Jean-François Papon Rosa Vargas-Poussou Jérôme Nevoux Anne Blanchard |
author_sort |
Mihaela Alexandru |
title |
Investigation of Vestibular Function in Adult Patients with Gitelman Syndrome: Results of an Observational Study |
title_short |
Investigation of Vestibular Function in Adult Patients with Gitelman Syndrome: Results of an Observational Study |
title_full |
Investigation of Vestibular Function in Adult Patients with Gitelman Syndrome: Results of an Observational Study |
title_fullStr |
Investigation of Vestibular Function in Adult Patients with Gitelman Syndrome: Results of an Observational Study |
title_full_unstemmed |
Investigation of Vestibular Function in Adult Patients with Gitelman Syndrome: Results of an Observational Study |
title_sort |
investigation of vestibular function in adult patients with gitelman syndrome: results of an observational study |
publisher |
MDPI AG |
series |
Journal of Clinical Medicine |
issn |
2077-0383 |
publishDate |
2020-11-01 |
description |
Gitelman syndrome (GS) is a rare salt-losing tubulopathy caused by an inactivating mutation in the <i>SLC12A3</i> gene, encoding the thiazide-sensitive sodium chloride cotransporter (NCC). Patients with GS frequently complain of vertigo, usually attributed to hypovolemia. Because NCC is also located in the endolymphatic sac, we hypothesized that patients with GS might have vestibular dysfunction. Between April 2013 and September 2016, 20 (22%) out of 90 patients followed at the reference center complained of vertigo in the absence of orthostatic hypotension. Sixteen of them were referred to an otology department for investigation of vestibular function. The vertigo was of short duration and triggered in half of them by head rotation. Seven patients (44%) had a vestibular syndrome. Vestibular syndrome was defined: (1) clinically, as nystagmus triggered by the head shaking test (<i>n</i> = 5); and/or (2) paraclinically, as an abnormal video head impulse test (<i>n</i> = 0), abnormal kinetic test (<i>n</i> = 4) and/or abnormal bithermal caloric test (<i>n</i> = 3). Five patients had associated auditory signs (tinnitus, aural fullness or hearing loss). In conclusion, we found a high frequency of vestibular disorder in GS patients suffering from vertigo, suggesting a role of NCC in the inner ear. Referent physicians of these patients should be aware of this extrarenal manifestation that requires specific investigations and treatment. |
topic |
Gitelman syndrome vertigo SLC12A3 NCC endolymphatic sac inner ear |
url |
https://www.mdpi.com/2077-0383/9/11/3790 |
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