Investigation of Vestibular Function in Adult Patients with Gitelman Syndrome: Results of an Observational Study

Mihaela Alexandru (1, 2) , Marie Courbebaisse (3, 4) , Christine Le Pajolec (1, 2) , Adeline Ménage (1, 2) , Jean-François Papon (1, 2) , Rosa Vargas-Poussou (3, 5, 6) , Jérôme Nevoux (1, 2, 7) , Anne Blanchard (8, 5, 6, 3)

1 Hôpital Bicêtre [AP-HP, Le Kremlin-Bicêtre]
2 Université Paris-Saclay
3 HEGP - Hôpital Européen Georges Pompidou [APHP]
4 INEM - UM 111 (UMR 8253 / U1151) - Institut Necker Enfants-Malades
5 CRC (UMR_S_1138 / U1138) - Centre de Recherche des Cordeliers
6 MARHEA - Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte [CHU-Necker]
7 IDA - Institut de l'Audition [Paris]
8 CIC 1418 - CIC - HEGP

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.

Keywords: Gitelman syndrome; NCC; SLC12A3; endolymphatic sac; inner ear; vertigo

Domains: Life Sciences [q-bio]

Mihaela Alexandru, Marie Courbebaisse, Christine Le Pajolec, Adeline Ménage, Jean-François Papon, et al.. Investigation of Vestibular Function in Adult Patients with Gitelman Syndrome: Results of an Observational Study. Journal of Clinical Medicine, 2020, 9 (11), pp.3790. ⟨10.3390/jcm9113790⟩. ⟨hal-03677176⟩