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Inner ear function in children with Fabry disease
1Department for Communication Disorders, University of Mainz, Mainz, Germany. keilmann@kommunikation.klinik.uni-mainz.de
Insights
Hearing loss is uncommon in young Fabry disease patients, but tinnitus may be an early indicator. This study assessed auditory function in pediatric patients undergoing enzyme replacement therapy (ERT).
Area of Science:
- Otolaryngology
- Genetics
- Pediatrics
Background:
- Fabry disease is a rare genetic disorder with uncertain hearing loss prevalence.
- Auditory dysfunction is a potential, yet understudied, manifestation in pediatric Fabry disease.
Purpose of the Study:
- To investigate the prevalence and characteristics of hearing loss in young patients with Fabry disease.
- To evaluate auditory function in children and adolescents receiving enzyme replacement therapy (ERT).
Main Methods:
- Comprehensive audiological assessments including pure-tone audiometry, speech audiometry, and tympanometry were performed.
- Evaluations included clinical ear, nose, and throat examinations.
- The study included six pediatric patients (four girls, two boys) aged 7-17 years undergoing ERT.
Main Results:
- No patients exhibited hearing loss or reported hearing disorders.
- Tinnitus was reported by three female patients, though not as a significant issue.
- One male patient reported new-onset tinnitus during the 6-month ERT period.
Conclusions:
- Hearing impairment in Fabry disease appears to manifest primarily in adulthood.
- Tinnitus may serve as an earlier symptom of Fabry disease than previously recognized.
- Further research is needed to confirm tinnitus as an early auditory biomarker in pediatric Fabry disease.
Aim:
The prevalence of hearing loss in patients with Fabry disease is still uncertain. This paper examines hearing loss in a group of young patients with Fabry disease.
Methods:
A clinical ear nose and throat examination, pure-tone air and bone conduction audiometry, speech audiometry and middle ear testing (tympanometry and acoustic reflex testing) were carried out in four girls and two boys with Fabry disease (age, 7-17 years), receiving enzyme replacement therapy (ERT).
Results:
None of the patients complained of a hearing disorder or suffered from hearing loss. Three female patients reported tinnitus; however, this was not reported as being a problem. One boy reported tinnitus for the first time during 6 months of ERT.
Conclusion:
Based on this small sample of patients, it appears that the hearing disorders associated with Fabry disease develop mainly in adulthood. Tinnitus may be an earlier symptom than previously thought in Fabry disease.
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