The impact of laronidase treatment in otolaryngological manifestations of patients with mucopolysaccharidosis

ABSTRACT INTRODUCTION: Mucopolysaccharidosis (MPS) is a lysosomal storage disease caused by deficiency of a-l-iduronidase. The otolaryngological findings include hearing loss, otorrhea, recurrent otitis, hypertrophy of tonsils and adenoid, recurrent rhinosinusitis, speech disorders, snoring, oral breathing and nasal obstruction. OBJECTIVE: To evaluate the impact of enzymatic replacement therapy with laronidase (Aldurazyme(r)) in patients with mucopolysaccharidosis (MPS I), regarding sleep and hearing disorders, and clinical manifestations in the upper respiratory tract (URT). METHODS: Nine patients with MPS I (8 Hurler-Scheie, and 1 Scheie phenotypes) of both sexes, ages ranging between 3 and 20 years, were included in this study. Patients were evaluated between seven and 11 months before the treatment and between 16 and 22 months after the onset of the enzymatic replacement. They were all submitted to a clinical and otolaryngological evaluation, including nasofibroscopical, polysomnographic and audiologic exams. RESULTS: The results' data showed decreasing of the frequency of ear, nose and throat infections, with improvement of the rhinorrhea and respiratory quality. No remarkable changes were observed regarding macroglossia and tonsil and adenoid hypertrophy. Audiometric and polysomnographic evaluations did not show statistical significance. CONCLUSION: Enzymatic replacement therapy in patients with mucopolysaccharidosis I provides control of recurrent URT infections, rhinorrhea and respiratory quality, however it is does not seem to improve audiologic and polisomnographic parameters, with no effect on adenoid and tonsils hypertrophy and macroglossia

Guidelines for the Management of Mucopolysaccharidosis Type I

Universidade Federal de São Paulo, Ctr Referencia Erros Inatos Metab, São Paulo, BrazilUniversidade Federal de São Paulo, Discipline Otorrinolaringol Pediat, São Paulo, BrazilPontificia Univ Catolica Campinas, São Paulo, BrazilUniv Ciencias Saude Alagoas, Maceio, BrazilUniv Fed Minas Gerais, Fac Med, Dept Propedeut Complementar, Belo Horizonte, MG, BrazilUniv São Paulo, Fac Med, Dept Pediat, São Paulo, BrazilUniversidade Federal de São Paulo, Dept Psicobiol, Discipline Med & Biol Sono, São Paulo, BrazilUniv Estacio Sa, Florianopolis, SC, BrazilAPAE, Triagem Neonatal, Salvador, BA, BrazilUniv Fed Rio Grande do Sul, Dept Bioquim ICBS, Porto Alegre, RS, BrazilHosp Clin Porto Alegre, Serv Genet Med, Porto Alegre, RS, BrazilHosp Reabilitacao, Med Lab Rede Sarah, Belo Horizonte, MG, BrazilFundacao Hosp Estado Minas Gerais, Ctr Geral Pediat, Belo Horizonte, MG, BrazilHosp Restauracao Pernambuco, Serv Hepatol Infantil, Recife, PE, BrazilUniv Fed Minas Gerais, Fac Med, Dept Oftalmol, Belo Horizonte, MG, BrazilHosp Clin Porto Alegre, Setor Mucopolissacaridose, Serv Genet Med, Porto Alegre, RS, BrazilHosp Evangel Londrina Parana, Serv Hematol, Londrina, BrazilClin Doencas Metab Dr Ricardo Pires, Porto Alegre, RS, BrazilHosp Socor, Serv Ortopedia Pediat, Belo Horizonte, MG, BrazilUniv Fed Rio Grande do Sul, Hosp Clin Porto Alegre, Ctr Pesquisas, Lab Terapia Genica, Porto Alegre, RS, BrazilUniversidade Federal de São Paulo, Disciplina Disturbios Comunicacao Humana, Dept Fonoaudiol, São Paulo, BrazilUniversidade Federal de São Paulo, Ctr Referencia Erros Inatos Metab, São Paulo, BrazilUniversidade Federal de São Paulo, Discipline Otorrinolaringol Pediat, São Paulo, BrazilUniversidade Federal de São Paulo, Dept Psicobiol, Discipline Med & Biol Sono, São Paulo, BrazilUniversidade Federal de São Paulo, Disciplina Disturbios Comunicacao Humana, Dept Fonoaudiol, São Paulo, BrazilWeb of Scienc