Hearing Evaluation of Mucopolysaccharidosis patients and Effectiveness of Enzyme Replacement Therapy: A cross sectional study

Document Type : Original Article

Authors

1 Audio-Vestibular Unit, ENT Department. Faculty of Medicine- Mansoura University

2 Department of Pediatricst. Faculty of Medicine, Mansoura University

3 Department of Pediatrics, Faculty of Medicine, Kafrelsheikh University, Egypt.

4 Department of Pediatrics. Faculty of Medicine, Mansoura University

5 Department of Pediatrics Faculty of Medicine, Mansoura University

Abstract

Background: Mucopolysaccharidosis (MPS) are disorders which result from enzymes deficiencies which are responsible for breakdown of glycosaminoglycans (GAGs). The impact of MPS on various body systems is well-documented, including the skeletal, cardiovascular, and respiratory systems, while the effects on hearing function and the efficacy of enzyme replacement therapy (ERT) in preserving hearing remain less explored.
The rationale of our study is the need for a comprehensive understanding of hearing impairment in pediatric MPS patients, including its prevalence, characteristics, and response to ERT and this can contribute to early detection, appropriate intervention, and improved quality of life for these patients, ultimately enhancing their overall healthcare management and outcomes.
Patients and Methods: This study was carried out in the Audiology clinic to evaluate hearing profile in cases of MPS. Data were collected by reviewing past medical records. All cases had a confirmed diagnosis of MPS by using a dry peripheral blood spot on filter paper, to determine the activity of the deficient enzyme and confirmed by mutational molecular analysis. All cases had audiological evaluation including pure tone audiometry (PTA) and auditory bainstem responce (ABR).
Results: Our data demonstrates that among the 16 participants, about 75 % had hearing loss using PTA and ABR. About 25 % of those who received ERT had normal hearing.
Conclusion: We conclude that MPS can cause different types of hearing loss ranging from mixed (MHL), conductive (CHL) and sensorineural (SNHL) and that ERT can improve hearing status among these patients.
Conclusion: We conclude that MPS can cause different types of hearing loss ranging from mixed (MHL), conductive (CHL) and sensorineural (SNHL) and that ERT can improve hearing status among these patients.

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