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Evidence of progression and fluctuation of hearing impairment in branchio-oto-renal syndrome

Int J Audiol. 2004 Oct;43(9):523-32. doi: 10.1080/14992020400050067.

Abstract

We retrospectively analysed long-term serial audiometry data from patients with branchio-oto-renal (BOR) syndrome to show the features of progression and fluctuation in hearing impairment and relate the findings to age and magnetic resonance imaging (MRI) findings in the petrosal bones. Thirty-two clinically affected BOR patients from six Dutch families (A-F) were included. Audiograms were available in 24 cases, covering followup intervals of between 3 and 30 years, and suitable for individual statistical analysis in 16 cases: 14 cases also had MRI findings. Significant progression in hearing impairment was found in 10 cases, while findings of significant fluctuation were made in seven cases. These findings did not clearly correlate with MRI findings. Substantial fluctuation occurred only in cases followed at a relatively young age. Patients with an enlarged endolymphatic duct and/or sac showed significantly higher sensorineural hearing thresholds than those with either normal MRI findings or cochlear/labyrinthine hypoplasia with or without enlarged duct or sac. We conclude that progressive, fluctuant hearing loss occurred in some BOR patients; however, only young patients showed substantial threshold fluctuation. BOR patients with an enlarged endolymphatic duct and/or sac on MRI seemed to be predisposed to developing more severe hearing impairment.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Age Factors
  • Aged
  • Audiometry, Pure-Tone
  • Auditory Threshold / physiology*
  • Branchio-Oto-Renal Syndrome / complications*
  • Branchio-Oto-Renal Syndrome / genetics
  • Branchio-Oto-Renal Syndrome / physiopathology
  • Child
  • Child, Preschool
  • DNA Mutational Analysis
  • Endolymphatic Duct / ultrastructure
  • Female
  • Follow-Up Studies
  • Hearing Loss / etiology*
  • Hearing Loss / genetics
  • Humans
  • Interviews as Topic
  • Intracellular Signaling Peptides and Proteins
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Nuclear Proteins
  • Pedigree
  • Protein Tyrosine Phosphatases
  • Regression Analysis
  • Retrospective Studies
  • Trans-Activators / genetics

Substances

  • Intracellular Signaling Peptides and Proteins
  • Nuclear Proteins
  • Trans-Activators
  • EYA1 protein, human
  • Protein Tyrosine Phosphatases