Abstract
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.
Highlights
Gitelman syndrome (GS) (Online Mendelian Inheritance in Man No 263800) is a rare nephrological disease characterized by hypokaliemia, hypomagnesemia, and hypocalciuria that mimics the effects of high doses of thiazide diuretics
The survey results showed that six patients (38%) reported that vertigo symptoms appeared when they were between the ages of 30 and 50
Two patients who complained of debilitating vertigo but who did not have vestibular syndrome or tinnitus dramatically improved upon treatment with betahistine
Summary
Gitelman syndrome (GS) (Online Mendelian Inheritance in Man No 263800) is a rare nephrological disease characterized by hypokaliemia, hypomagnesemia, and hypocalciuria that mimics the effects of high doses of thiazide diuretics. The disease is caused, in most cases, by an inactivating mutation that is recessively inherited in the SLC12A3 gene, which encodes the sodium chloride cotransporter (NCC) [3]. Between 20 and 50% of GS patients complain of dizziness, usually attributed to hypotension or vagal sickness [4,5]. The endolymphatic sac is known to regulate endolymph homeostasis through an ion and water exchange (Figure S1), and NCC is thought to contribute to this homeostasis [7,8]. We hypothesized that defects in NCC in GS patients lead to modifications of endolymph regulation. We presented a retrospective analysis of a self-evaluation of the symptoms and a vestibular function evaluation in 16 patients with vertigo not attributed to hypotension or vagal sickness
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