title: The impact of laronidase treatment in otolaryngological manifestations of patients with mucopolysaccharidosis.
abstract: BACKGROUND
  Mucopolysaccharidosis (MPS) is a lysosomal storage disease caused by deficiency of α-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(®)) 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Universidade Federal de São Paulo (EPM-UNIFESP), Escola Paulista de Medicina, Departamento de Otorrinolaringologia e Cirurgia de Cabeça e Pescoço, São Paulo, SP, Brazil. Electronic address: jpedualibi@uol.com.br.
authors.forename: Ana Paula Fiuza Funicello
authors.initials: AP
authors.lastname: Dualibi
authors.affiliation: Universidade Federal de São Paulo (EPM-UNIFESP), Escola Paulista de Medicina, Departamento de Pediatria, São Paulo, SP, Brazil.
authors.forename: Ana Maria
authors.initials: AM
authors.lastname: Martins
authors.affiliation: Universidade Federal de São Paulo (EPM-UNIFESP), Escola Paulista de Medicina, Departamento de Pediatria, São Paulo, SP, Brazil.
authors.forename: Gustavo Antônio
authors.initials: GA
authors.lastname: Moreira
authors.affiliation: Universidade Federal de São Paulo (EPM-UNIFESP), Escola Paulista de Medicina, Departamento de Otorrinolaringologia e Cirurgia de Cabeça e Pescoço, São Paulo, SP, Brazil.
authors.forename: Marisa Frasson
authors.initials: MF
authors.lastname: de Azevedo
authors.affiliation: Universidade Federal de São Paulo (EPM-UNIFESP), Escola Paulista de Medicina, Departamento de Otorrinolaringologia e Cirurgia de Cabeça e Pescoço, São Paulo, SP, Brazil.
authors.forename: Reginaldo Raimundo
authors.initials: RR
authors.lastname: Fujita
authors.affiliation: Universidade Federal de São Paulo (EPM-UNIFESP), Escola Paulista de Medicina, Departamento de Otorrinolaringologia e Cirurgia de Cabeça e Pescoço, São Paulo, SP, Brazil.
authors.forename: Shirley Shizue Nagata
authors.initials: SS
authors.lastname: Pignatari
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D056947:Enzyme Replacement Therapy; D005260:Female; D006801:Humans; D007068:Iduronidase / Q000627:therapeutic use*; D008297:Male; D008059:Mucopolysaccharidosis I / Q000150:complications / Q000188:drug therapy*; D010038:Otorhinolaryngologic Diseases / Q000188:drug therapy* / Q000209:etiology; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D007068:Iduronidase
keywords: Apneia do sono; Enzymatic replacement therapy; Hearing loss; Infecções do TRS; Laronidase; Mucopolissacaridose I; Mucopolysaccharidosis I; Perda auditiva; Sleep apnea; Terapia de reposição enzimática; URT infections