Dados do Trabalho

Título

NIEMANN-PICK TIPO C: ANALISE RETROSPECTIVA DE PACIENTES DA REGIAO METROPOLITANA DE CURITIBA

Introdução

Niemann-Pick tipo C é uma doença metabólica, multissistêmica, na qual ocorre o acúmulo de colesterol não estratificado no lisossoma celular. De incidência é estimada em 1:100.000 nascidos vivos, conforme a literatura. Com apresentações perinatais, infantis, juvenis e adulta, sendo os sintomas viscerais e neurológicos os mais marcantes. O miglustat é a única droga modificadora do curso da doença aprovada até o momento.

Objetivo

Analisar o perfil demográfico e clínico dos pacientes com NPC dos pacientes da região metropolitana de Curitiba.

Métodos

Pesquisa documental, retrospectiva observacional transversal e analítica, com base nos prontuários dos pacientes do ambulatório de Neurologia Infantil em serviço de Curitiba, Paraná, de consultas realizadas entre 2013 a 2017, comparados com a literatura atual (janeiro 2021).

Resultados

Amostra de 6 pacientes, 3 femininos e 3 masculinos, idade média de 20.6 anos (desvio padrão 5.39). Todos os pacientes apresentaram sintomas neurológicos motores, com destaque para a ataxia e paralisia supranuclear do olhar vertical. As comorbidades encontradas foram epilepsia (3) e transtornos psiquiátricos (4). Todos os indivíduos utilizavam miglustat, com início de tratamento até 1 ano após o diagnóstico genético. O escore de ataxia (SARA) comparativo entre 2013 e 2016/2017, teve redução em 4 pacientes e aumento em 2 pacientes.

Conclusões

Houve predomínio da forma juvenil (50%). O escore SARA demonstrou melhora na maiorias dos indivíduos, exceto naqueles que apresentavam tempo de doença prolongado (diagnóstico tardio). A prevalência de distúrbios psiquiátricos em 66% da amostra chama a atenção para a psicotogênese da doença. Os resultados encontrados estão em concordância com a literatura atual, corroboram com a importância do diagnóstico precoce para inicio do tratamento e o beneficio do uso de miglustat.

Palavras Chave

Niemann-Pick tipo C; erros inatos do metabolismo; doenças raras;

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Fonte de Fomento (se houver)

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Não há conflito de interesses.

Área

Erros inatos do Metabolismo