Disease progression in Sanfilippo type B: Case series of Brazilian patients
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Tipo de produção
article
Data de publicação
2024
Título da Revista
ISSN da Revista
Título do Volume
Editora
SOC BRASIL GENETICA
Autores
MONTENEGRO, Yorran Hardman Araujo
KUBASKI, Francyne
TRAPP, Franciele Barbosa
RIEGEL-GIUGLIANI, Mariluce
SOUZA, Carolina Fischinger Moura de
RIBEIRO, Erlane Marques
LOURENCO, Charles Marques
CARDOSO-DOS-SANTOS, Augusto Cesar
RIBEIRO, Marcia Goncalves
Citação
GENETICS AND MOLECULAR BIOLOGY, v.47, n.1, article ID e20230285, 6p, 2024
Resumo
Mucopolysaccharidosis type IIIB (MPS IIIB) is caused by deficiency of alpha-N-acetylglucosaminidase, leading to storage of heparan sulphate. The disease is characterized by intellectual disability and hyperactivity, among other neurological and somatic features. Here we studied retrospective data from a total of 19 MPS IIIB patients from Brazil, aiming to evaluate disease progression. Mean age at diagnosis was 7.2 years. Speech delay was one of the first symptoms to be identified, around 2-3 years of age. Behavioral alterations include hyperactivity and aggressiveness, starting around age four. By the end of the first decade, patients lost acquired abilities such as speech and ability to walk. Furthermore, as disease progresses, respiratory, cardiovascular and joint abnormalities were found in more than 50% of the patients, along with organomegaly. Most common cause of death was respiratory problems. The disease progression was characterized in multiple systems, and hopefully these data will help the design of appropriate clinical trials and clinical management guidelines.
Palavras-chave
Sanfilippo syndrome, Mucopolysaccharidosis IIIB, MPS Brazil Network, lysosomal storage diseases, heparan sulfate, Brazil
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