Carbajal-Rodríguez L, Voirol-García A, Mora-Magaña I

Idioma: Español
Referencias bibliográficas: 39
Paginas: 38-45
Archivo PDF: 283.50 Kb.

RESUMEN

Introducción. La enfermedad de Gaucher (EG), es una esfingolipidosis heterogénea por mutaciones en el gen que codifica la enzima lisosomal glucocerebrosidasa (GC) responsable de la hidrólisis intracelular de glucosilceramida con depósito de D-glucosilceramida en células del sistema fagocítico mononuclear, o por saposina C (SAP C). El gen está en el cromosoma 1 (q21-31). Su deficiencia produce tres tipos: I, no neuronopático; II, neuronopático agudo; III, neuronopático subagudo.
Objetivo: Observar la relación genotipo y fenotipo en la EG en pacientes mexicanos.
Material y Métodos: Estudio retrospectivo, descriptivo, longitudinal, comparativo de 1983-2006.
Variables estudiadas: Edad, sexo, tipo de enfermedad, mutación. Comparar con casuísticas de España, Brasil, Reino Unido y el grupo colaborativo internacional para el estudio de la enfermedad de Gaucher (GCIEGG). Se estudiaron 63 pacientes, 31 mujeres (49%) 32 hombres (51%).
Resultados: Todos los pacientes mostraron las mutaciones N370S y L444P en estado homocigótico o heterocigótico. N370S, seis homocigóticos (9.5%) y 37 heterocigóticos (58.7%). L444P, seis homocigóticos (9.5%) y 14 heterocigóticos (22.2%). Tipo I, los alelos N370S seis homocigóticos y 42 heterocigóticos; tipo III L444P, seis homocigóticos y dos heterocigóticos.
Conclusiones: Los resultados en pacientes mexicanos no difieren con lo descrito en la literatura de otros países.

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