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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 

Distal renal tubular acidosis associated with large vestibular aqueduct and sensorineural hearing loss.

CONCLUSIONS: Hearing loss and equilibrium dysfunction have different etiologies in patients with large vestibular aqueduct syndrome. We suggest that all children with distal renal tubular acidosis (dRTA) should be subjected to an equilibrium study and audiological evaluation, as well as to a CT or MRI scan. OBJECTIVE: dRTA has been described in association with sensorineural hearing loss, but there are no reported cases that have been examined in detail using audiological and equilibrium studies. We report here a case of progressive sensorineural hearing loss with a large vestibular aqueduct and dRTA, and the results of audiological and equilibrium studies. MATERIAL AND METHODS: A 31-year-old female presented with hearing loss, tinnitus and vertigo. She had been treated with oral sodium citrate, potassium citrate and potassium chloride supplementation because of dRTA since the age of 1 month. RESULTS: The pure-tone audiogram of the patient was off the scale for the right ear and showed progressive sensorineural hearing loss for the left ear. Ice-water caloric testing showed canal paresis on the left side. Temporal bone CT and inner ear MRI revealed a large vestibular aqueduct and a large endolymphatic sac on both sides.[1]

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