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CC BY-NC-ND 4.0 · Int Arch Otorhinolaryngol 2021; 25(03): e386-e391
DOI: 10.1055/s-0040-1712107
Original Research

Hearing Loss in Mucopolysaccharidosis

Cibele Gomes Bicalho 
1   Department of Otorhinolaryngology, Hospital Universitário Professor Edgard Santos, Salvador, BA, Brazil
,
Emília Katiane Embiruçu de Araújo Leão
2   Medical Genetics Service, Hospital Universitário Professor Edgard Santos (HUPES), Salvador, BA, Brazil
3   Department of Life Sciences, Universidade Estadual da Bahia (UNEB), BA, Brazil
,
Álvaro Muiños de Andrade
1   Department of Otorhinolaryngology, Hospital Universitário Professor Edgard Santos, Salvador, BA, Brazil
,
Angelina Xavier Acosta
2   Medical Genetics Service, Hospital Universitário Professor Edgard Santos (HUPES), Salvador, BA, Brazil
4   Department of Pediatrics, Universidade Federal da Bahia, Salvador, BA, Brazil
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Abstract

Introduction Mucopolysaccharidosis (MPS) is a set of rare diseases caused by deficiency of lysosomal enzymes that lead to the accumulation of glycosaminoglycans (GAG) in tissues and organs, which, in turn, is responsible for the multisystemic clinical, chronic, and progressive symptoms.

Objective To describe the profile of the otorhinolaryngological clinical examination and audiology tests of patients with MPS disease.

Methods The present study is a case series. The evaluation was performed, initially, in 24 patients with MPS types I, II, IIIA, IV and VI.

Results The most common hearing complaint was hearing loss, which was confirmed by audiology tests in almost 100% of the patients, most of whom presented conductive hearing loss.

Conclusions It is important to evaluate the complaints, physical examination, and audiology tests in patients with MPS. The otorhinolaryngologistshould be part of the group of professionals that follows these patients to better monitor their hearing and provide early hearing rehabilitation.

Keywords

mucopolysaccharidosis - otorhinolaryngology - metabolism - inborn errors of metabolism - hearing loss


Publication History

Received: 13 December 2019

Accepted: 16 March 2020

Article published online:
24 September 2020

© 2020. Fundação Otorrinolaringologia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commecial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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