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Sensorineural hearing loss associated with Byler disease.
T Oshima1, K Ikeda, T Takasaka
1Department of Otolaryngology, Tohoku University School of Medicine, Sendai, Japan. oshima@orl.med.tohoku.ac.jp
The Tohoku Journal of Experimental Medicine
|August 24, 1999
Summary
Progressive familial intrahepatic cholestasis (PFIC), or Byler disease, is a severe liver condition. This study links PFIC in siblings to progressive, high-frequency sensorineural hearing loss, suggesting a potential genetic connection.
Area of Science:
- Genetics
- Hepatology
- Otolaryngology
Background:
- Progressive familial intrahepatic cholestasis (PFIC), also known as Byler disease, is an autosomal recessive lethal liver disorder.
- Previous reports suggest an occasional association between PFIC and sensorineural hearing loss, but without detailed audiological data.
Observation:
- Two siblings diagnosed with Byler disease presented with significant hearing loss.
- Comprehensive audiological examinations, including pure tone, Bekesy, speech audiometry, and auditory brainstem response, were conducted.
Findings:
- Audiometric data revealed sensorineural hearing loss of cochlear origin.
- The hearing loss was characterized by high-frequency deficits and a progressive nature.
Implications:
- The findings suggest a possible genetic link between Byler disease and sensorineural hearing loss.
- Further research may identify a novel gene associated with deafness that is also related to Byler disease, elucidating the mechanism of cochlear disorder in these patients.