Evolución clínica de dos pacientes pediátricos con enfermedad de Gaucher en tratamiento enzimático durante 9 años [artículo]
Por: Martín Hernández, Elena [Unidad de Enfermedades Metabólicas y Mitocondriales]
| Quijada Fraile, Pilar [Pediatría] | García Silva, María Teresa [Unidad de Enfermedades Metabólicas y Mitocondriales].
Colaborador(es): Servicio de Pediatría-Neonatología.
Editor: Medicina Clínica (Barcelona), 2011Descripción: 137(Suppl 1):43-5.Recursos en línea: Solicitar documento Resumen: We report two cases of type 1 Gaucher's disease in childhood and their outcomes after 9 years of enzyme replacement therapy. The first case concerns a 6-year-old boy who was diagnosed with Gaucher's disease after developing petechial exanthema, thrombocytopenia, anemia and hepatosplenomegaly, coinciding with chickenpox. The second case involves a 9-year-old girl who was referred to our unit. She had hepatosplenomegaly since 4-month-old and subsequently developed thrombocytopenia. Both patients have the N370S/L444P mutation. Enzyme replacement therapy was started with 60 U/kg imiglucerase every 2 weeks at the age of 6 and 9 years, respectively. In both patients, the therapeutic goals were achieved and maintained throughout treatment with a dose of 30 U/kg.
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Formato Vancouver:
Quijada Fraile P, Martín Hernández E, García-Silva MT. Evolución clínica de dos pacientes pediátricos con enfermedad de Gaucher en tratamiento enzimático durante 9 años. Med Clin (Barc). 2011;137 Suppl 1:43-5.
PMID: 22230125
Contiene 5 referencias.
We report two cases of type 1 Gaucher's disease in childhood and their outcomes after 9 years of enzyme replacement therapy. The first case concerns a 6-year-old boy who was diagnosed with Gaucher's disease after developing petechial exanthema, thrombocytopenia, anemia and hepatosplenomegaly, coinciding with chickenpox. The second case involves a 9-year-old girl who was referred to our unit. She had hepatosplenomegaly since 4-month-old and subsequently developed thrombocytopenia. Both patients have the N370S/L444P mutation. Enzyme replacement therapy was started with 60 U/kg imiglucerase every 2 weeks at the age of 6 and 9 years, respectively. In both patients, the therapeutic goals were achieved and maintained throughout treatment with a dose of 30 U/kg.
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