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

• Main Authors: Ana Paula Fiuza Funicello Dualibi, Ana Maria Martins, Gustavo Antônio Moreira, Marisa Frasson de Azevedo, Reginaldo Raimundo Fujita, Shirley Shizue Nagata Pignatari
• Format: Article
• Language: English
• Published: Elsevier
• Series: Brazilian Journal of Otorhinolaryngology
• Subjects: Mucopolysaccharidosis I; Laronidase; Enzymatic replacement therapy; URT infections; Sleep apnea; Hearing loss
• Online Access: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1808-86942016000500522&lng=en&tlng=en

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.