Geneticista alerta para doença rara no Rio Grande do Norte

Na próxima segunda-feira (03), o médico geneticista João Neri fará uma palestra, no Centro de Reabilitação Infantil, para orientar os profissionais da Saúde de Natal sobre as mucopolissacaridoses (MPS), uma das mais de 7 mil doenças raras existentes, as quais, hoje, somadas, afetam em torno de 13 milhões de brasileiros. Durante a apresentação, serão abordadas as principais questões que envolvem essas doenças genéticas raras, crônicas e progressivas, causadas pela ausência ou deficiência de uma enzima no corpo. Assim como em toda a região Nordeste, o Rio Grande do Norte também registra alta incidência de enfermidades catalogadas como raras.

“As mucopolissacaridoses (ou MPS) são doenças genéticas graves, a maioria de diagnóstico fácil, mas muito pouco conhecidas pelos profissionais da Saúde em todo Brasil. São erros inatos do metabolismo, produzidos por ausência ou deficiência de enzimas nas células do corpo, levando à perda da capacidade de quebrar e reciclar os mucopolissacárides, hoje chamados glicosaminoglicanos ou GAGs, que são moléculas que apoiam a sustentação das células e facilitam sua nutrição e funcionamento adequados. A descoberta precoce da enfermidade e o tratamento adequado, contínuo e ininterrupto são essenciais para que o paciente, não só interrompa ou retarde a progressão da doença, mas também consiga ter melhor qualidade de vida”, explica o geneticista João Neri.

Fonte: www.robsonpiresxerife.com

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