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

Ann Otol Rhinol Laryngol. 2002 May;111(5 Pt 1):385-91. doi: 10.1177/000348940211100501.

Abstract

Distal renal tubular acidosis (dRTA) is characterized by a defect in urinary acidification with various degrees of metabolic acidosis; it can be inherited either as an autosomal dominant trait or as a recessive trait. The recessive form is associated in about one third of cases with progressive sensorineural hearing loss (SNHL). We performed a neuroradiological study in 3 consecutive unrelated pediatric patients affected with sporadic dRTA and progressive SNHL that disclosed an enlarged vestibular aqueduct (VA) and endolymphatic sac (ES) in each. The presence of an enlarged VA in our patients with dRTA and SNHL could contribute to the development, or at least the progression, of the hearing impairment. We suppose that the same molecular defect present in both the kidney and the inner ear could be the cause of dRTA and of the development of the enlarged VA and ES.

Publication types

  • Case Reports
  • Comparative Study

MeSH terms

  • Acidosis, Renal Tubular / complications*
  • Acidosis, Renal Tubular / genetics
  • Adolescent
  • Age Factors
  • Audiometry, Pure-Tone
  • Bone Conduction
  • Child
  • Child, Preschool
  • Endolymphatic Duct / diagnostic imaging
  • Female
  • Follow-Up Studies
  • Hearing Loss, Sensorineural / diagnosis
  • Hearing Loss, Sensorineural / etiology*
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Male
  • Tomography, X-Ray Computed
  • Vestibular Aqueduct* / diagnostic imaging