RESUMO
Gaucher disease is the most prevalent lysosomal storage disorder caused by recessive mutation of the beta-glucocerebrosidase gene, which leads to massive lysosomal accumulation of glucocerebrosids especially in macrophages of bone marrow, liver and spleen. The most common presenting signs and symptoms are hepatosplenomegaly, bone pain, pathologic fractures, fatigue, bleeding tendency and recurrent infections. Regular enzyme replacement therapy which is available since 1992 in Hungary successfully reverses the symptoms of the disorder, including hematological abnormalities, bone infiltration and hepatosplenomegaly. Authors present here two cases diagnosed in late adulthood to emphasize the importance of early diagnosis and treatment.
Assuntos
Osso e Ossos/patologia , Terapia de Reposição de Enzimas , Doença de Gaucher/diagnóstico , Doença de Gaucher/tratamento farmacológico , Pulmão/patologia , beta-Glucosidase/uso terapêutico , Idoso de 80 Anos ou mais , Biomarcadores/sangue , Terapia de Reposição de Enzimas/métodos , Feminino , Doença de Gaucher/enzimologia , Doença de Gaucher/genética , Doença de Gaucher/patologia , Hepatomegalia/genética , Humanos , Hungria , Pessoa de Meia-Idade , Mutação , Sistema de Registros , Esplenomegalia/genética , beta-Glucosidase/sangue , beta-Glucosidase/genéticaRESUMO
Nijmegen Breakage syndrome is a rare, autosomal recessive disorder characterized by severe, combined immunodeficiency, recurrent sinopulmonary infections, chromosomal instability, radiosensitivity, predisposition to malignancy, a "bird-like" facial appearance, progressive microcephaly, short stature, and mental retardation. The syndrome is caused by mutations in the NBS1 gene, which encodes a DNA-repair protein, named nibrin. The authors summarize current knowledge on molecular genetics, diagnostic characteristics and therapeutic options of this inborn error of innate immunity.
