ABSTRACT
Objetivo: avaliar a qualidade de vida de pacientes com mucopolissacaridoses. Método: estudo do tipo série de casos, descritivo, realizado no Centro de Tratamento de Erros Inatos do Metabolismo. Utilizou-se o questionário de qualidade de vida SF-36. A coleta foi realizada durante o período de setembro a novembro de2014, sendo analisada no software Microsoft Office Excel-2010. Resultados: na avaliação pelo SF-36,observou-se que as dimensões com menores valores foram as de aspectos físicos (28,8) e as estado geral de saúde (50,3) e as com maiores valores foram as de saúde mental (73,8) e as de aspectos sociais (65,4).Conclusão: o questionário SF-36 mostrou-se um instrumento interessante para a avaliação da qualidade devida dos pacientes, pois permitiu detectar comprometimentos importantes em suas funções básicas.
Subject(s)
Male , Female , Humans , Child , Adolescent , Adult , Metabolism, Inborn Errors , Mucopolysaccharidoses , Quality of Life , Enzyme Replacement Therapy , Epidemiology, Descriptive , Surveys and Questionnaires , Mucopolysaccharidoses/diagnosisABSTRACT
Gaucher Disease (GD) is a rare autosomal recessive disorder caused by the deficient activity of beta-glucocerebrosidase. GD is one of the lysosomal storage diseases with the most remarkable alterations in the immune system, and that may manifest clinically as autoimmune disorders and malignancy. We reported the immunological evaluation of a patient with GD and lupus nephritis. Decreased absolute values of T, and NK, and an inversion of CD4(+)/CD8(+) ratio, low levels of IgM and normal B cells were found when compared to reference values in a Brazilian population. Absence ofCD4(+)CD25(high)Foxp3(+) Treg and high levels of total NKT, iNKT cells and CD8(+) iNKT subsets were also observed when compared to the healthy control and GD patient without lupus nephritis. Treg subset and CD8(+) iNKT abnormalities might be involved in severe lupus nephritis in a GD patient. We conclude by emphasizing the importance of the immunological evaluation on early diagnosis of autoimmunity contributing to reduce mortality and morbidity of these patients.
