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

Progressive sensorineural hearing loss in association with distal renal tubular acidosis.

The autosomal recessive inherited syndrome of distal renal tubular acidosis and sensorineural hearing loss may present in one of two distinct fashions. The rare adolescent form is characterized by mild renal tubular acidosis, mild to moderate sensorineural hearing loss, and otherwise normal growth and development. The more common infantile type typically presents in the first year of life with failure to thrive, acidosis, and a more severe sensorineural hearing loss. In this report, progression of sensorineural hearing loss is documented for the first time in two siblings with the infantile variant. This association suggests that all children with distal renal tubular acidosis should undergo sequential audiologic evaluations with the institution of appropriate amplification and educational intervention as needed.[1]


  1. Progressive sensorineural hearing loss in association with distal renal tubular acidosis. Brown, M.T., Cunningham, M.J., Ingelfinger, J.R., Becker, A.N. Arch. Otolaryngol. Head Neck Surg. (1993) [Pubmed]
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