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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 SLC12A3 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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7700665/ https://www.ncbi.nlm.nih.gov/pubmed/33238651 http://dx.doi.org/10.3390/jcm9113790 |
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author | Alexandru, Mihaela Courbebaisse, Marie Le Pajolec, Christine Ménage, Adeline Papon, Jean-François Vargas-Poussou, Rosa Nevoux, Jérôme Blanchard, Anne |
author_facet | Alexandru, Mihaela Courbebaisse, Marie Le Pajolec, Christine Ménage, Adeline Papon, Jean-François Vargas-Poussou, Rosa Nevoux, Jérôme Blanchard, Anne |
author_sort | Alexandru, Mihaela |
collection | PubMed |
description | Gitelman syndrome (GS) is a rare salt-losing tubulopathy caused by an inactivating mutation in the SLC12A3 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 (n = 5); and/or (2) paraclinically, as an abnormal video head impulse test (n = 0), abnormal kinetic test (n = 4) and/or abnormal bithermal caloric test (n = 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. |
format | Online Article Text |
id | pubmed-7700665 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-77006652020-11-30 Investigation of Vestibular Function in Adult Patients with Gitelman Syndrome: Results of an Observational Study Alexandru, Mihaela Courbebaisse, Marie Le Pajolec, Christine Ménage, Adeline Papon, Jean-François Vargas-Poussou, Rosa Nevoux, Jérôme Blanchard, Anne J Clin Med Article Gitelman syndrome (GS) is a rare salt-losing tubulopathy caused by an inactivating mutation in the SLC12A3 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 (n = 5); and/or (2) paraclinically, as an abnormal video head impulse test (n = 0), abnormal kinetic test (n = 4) and/or abnormal bithermal caloric test (n = 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. MDPI 2020-11-23 /pmc/articles/PMC7700665/ /pubmed/33238651 http://dx.doi.org/10.3390/jcm9113790 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Alexandru, Mihaela Courbebaisse, Marie Le Pajolec, Christine Ménage, Adeline Papon, Jean-François Vargas-Poussou, Rosa Nevoux, Jérôme Blanchard, Anne Investigation of Vestibular Function in Adult Patients with Gitelman Syndrome: Results of an Observational Study |
title | 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_short | 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 |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7700665/ https://www.ncbi.nlm.nih.gov/pubmed/33238651 http://dx.doi.org/10.3390/jcm9113790 |
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