RESUMO
Introdução: Mucopolissacaridose (MPS) é um conjunto de doenças raras causadas pela deficiência de enzimas lisossômicas levando ao acúmulo de glicosaminoglicanos (GAG) em órgãos e tecidos, responsáveis pelo quadro clínico multissistêmico, crônico e progressivo. O comprometimento auditivo é frequente. Objetivo: Avaliar manifestações auditivas de pacientes com MPS. Metodologia: Estudo descritivo, série de casos do comprometimento auditivo de pacientes com MPS. Foi realizada avaliação retrospectiva através de revisão de prontuário e avaliação prospectiva de dezembro de 2012 a outubro de 2014. Foram analisados a primeira e a última avaliação otorrinolaringológica (ORL) e audiológica realizada. Resultados: A principal queixa auditiva foi a hipoacusia. Aperdaauditiva estava presente em quase todos os pacientes, sendo que a perda auditiva condutiva foi a mais frequente, especialmente nos pacientes com MPS VI. Conclusão: A perda auditiva é muito frequente em pacientes com MPS, devendo o acompanhamento audiológico ser realizado precocemente.
Introduction: Mucopolysaccharidosis (MPS) is a set of rare diseases caused by deficiency of lysosomal enzymes leading to accumulation of glicosaminoglicanos (GAG) in tissues and organs responsible for the multisystemic clinical, chronic and progressive symptons. Objective: Todescribe the profile of otorhinolaryngological clinical examination and audiology tests of patients with MPS disease. Methods:Study of case series. The evaluation was performed, at the beginning, in 31 patients with MPS I, II, IIIA, IV and VI. Results: The most common hearing complaint was hearing loss and it was confirmed by audiology tests in almost 100% of patients, mostly with condutive hearing loss. Conclusions: It is important to evaluate the complaints, physical examination and audiology tests in MPS disease. Otorhinolaryngologist should be part of professional group that follow these patients in order to better monitor their hearing and provide early hearing rehabilitation.
Assuntos
Humanos , Audição/fisiologia , Audição/imunologia , Mucopolissacaridoses/diagnóstico , Mucopolissacaridoses/epidemiologia , Mucopolissacaridoses/imunologia , Mucopolissacaridoses/metabolismo , Mucopolissacaridoses/patologia , Perda Auditiva/complicações , Perda Auditiva/diagnóstico , Perda Auditiva/patologiaRESUMO
In order to clarify the possible mechanism of hearing loss in immune-mediated sensorineural hearing loss, basic research needed includes animal model studies. In the present investigation, we examined hearing thresholds and cochlear histologies of the MRL/lpr mouse which is now well-known as a model for pathology consistent with systemic lupus erythematosis (SLE). Present findings demonstrated that there were no statistically significant differences in auditory brainstem response (ABR) thresholds between 4- to 6-week-old "young" and 20- to 25-week-old "old" MRL mice. These differences were not sex-dependent. Under light microscopy, there were no abnormal morphological findings in the cochleas of either young or old MRL mice. With immunohistochemistry, mouse IgG was detected around the capillary walls in the stria vascularis in both young and old MRL mice. Serum IgG level of the MRL mice significantly decreased after predonisolone (PSL) administration. However, expression of mouse IgG in the stria vascularis was not observed in the MRL mice after PSL administration. From these results, we speculate that the hearing of the MRL mouse does not always deteriorate, and the deposition of mouse IgG on the capillary wall in the stria vascularis is not a sufficient factor to induce hearing loss. At this point, we conclude that the MRL mouse should not be considered a useful model for immune-mediated sensorineural hearing loss.