Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a case report
Por:
Andrade I, Ribeiro R, Carneiro ZA, Giugliani R, Pereira C, Cozma C, Grinberg-Vaisman DR, Vilageliu L and Lourenco CM
Publicada:
25 ene 2022
Ahead of Print:
25 ene 2022
Categoría:
Medicine (miscellaneous)
Resumen:
Background Mucopolysaccharidosis VI, or Maroteaux-Lamy disease, is an autosomal recessive disease characterized by deficiency of the enzyme arylsulfatase B in the lysosomal catabolism of glycosaminoglycans. Due to reduced (or even null) enzyme activity, glycosaminoglycans (mainly dermatan sulfate) accumulates, leading to a multisystemic disease. Mucopolysaccharidosis VI induces reduced growth, coarse face, audiovisual deficits, osteoarticular deformities, and cardiorespiratory issues, hampering the quality of life of the patient. Enzyme replacement therapy with galsulfase (Naglazyme, BioMarin Pharmaceuticals Inc., USA) is the specific treatment for this condition. Although studies have shown that enzyme replacement therapy slows the progression of the disease, the effects of long-term enzyme replacement therapy remain poorly understood. Case presentation A 29-year-old, Caucasian, male patient diagnosed with mucopolysaccharidosis VI was treated with enzyme replacement therapy for over 15 years. Enzyme replacement therapy was initiated when patient was 13 years old. The patient evolved multiplex dysostosis, carpal tunnel syndrome, thickened mitral valve, and hearing and visual loss. Conclusions Although enzyme replacement therapy did not prevent the main signs of mucopolysaccharidosis VI, it slowed their progression. Additionally, enzyme replacement therapy was associated with a longer survival compared with the untreated affected sibling. Taken together, the results indicate that enzyme replacement therapy positively modified the course of the disease.
Filiaciones:
Andrade I:
Faculdade de Medicina, Centro Universitário Estácio de Ribeirão Preto, Rua Abrahão Issa Halach, 980, Ribeirânia, Ribeirão Preto, SP, 14096-160, Brazil
Ribeiro R:
Faculdade de Medicina, Centro Universitário Estácio de Ribeirão Preto, Rua Abrahão Issa Halach, 980, Ribeirânia, Ribeirão Preto, SP, 14096-160, Brazil
Carneiro ZA:
Faculdade de Medicina, Centro Universitário Estácio de Ribeirão Preto, Rua Abrahão Issa Halach, 980, Ribeirânia, Ribeirão Preto, SP, 14096-160, Brazil
Giugliani R:
Serviço de Genética Médica e Grupo de Pesquisa DR BRASIL, Hospital das Clínicas de Porto Alegre, Porto Alegre, RS, Brazil
Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil
Pereira C:
Centogene AG, Rostock, Germany
Cozma C:
Centogene AG, Rostock, Germany
Grinberg-Vaisman DR:
Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona, CIBERER, IBUB, IRSJD, Barcelona, Spain
Vilageliu L:
Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona, CIBERER, IBUB, IRSJD, Barcelona, Spain
Lourenco CM:
Faculdade de Medicina, Centro Universitário Estácio de Ribeirão Preto, Rua Abrahão Issa Halach, 980, Ribeirânia, Ribeirão Preto, SP, 14096-160, Brazil.
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