Gasser cell: A biomarker of response to enzyme replacement therapy in patients with mucopolysaccharidosis type VI

• Autor(a) principal: Melo, Márcio Antonio Wanderley de
• Data de Publicação: 2021
• Outros Autores: Kertenetzky, Marcelo Soares, Silveira , Cristina Magalhães da, Ribeiro, Maíra Magalhães, Arcanjo, Gabriela da Silva, Lucena-Araújo, Antônio Roberto, Bezerra, Marcos André Cavalcanti, Muniz, Maria Tereza Cartaxo, Cavalcanti, Maria do Socorro de Mendonça
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Research, Society and Development
• Texto Completo: https://rsdjournal.org/index.php/rsd/article/view/14726
• topic: Enzyme replacement therapy; Galsulfase; Leukocyte inclusions; Lysosomal storage disease; Mucopolysaccharidosis type VI.; Enfermedad por almacenamiento lisossômico; Inclusiones de leucócitos; Galsulfasa; Mucopolisacaridosis tipo VI; Terapia de reemplazo enzimático.; Doença de armazenamento lisossomal; Galsulfase; Inclusões de leucócitos; Mucopolissacaridose tipo VI; Terapia de reposição enzimática.

The mucopolysaccharidosis (MPS) type VI is a rare lysosomal storage disease presenting leukocyte inclusions (Alder-Reilly anomaly) and lymphocytes with metachromatic inclusion surrounded by clear spaces, Gasser cells. Currently, an enzyme replacement therapy (ERT) with galsulfase is used to treat MPS type VI. This study evaluated 14 patients with MPS type VI performed cell counts Gasser before and after six months from the beginning of ERT. It was observed an average of 12.7% cells per patient, and after six months was found complete cell Gasser disappearance, proving to be an effective biomarker of response to ERT.