Reporte de caso: familia que padece enfermedad de Fabry. Análisis de su expresión clínica
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Fecha
2019
Autores
Coba Lacle, José Antonio
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Ediciones Universidad Simón Bolívar
Facultad de Ciencias Básicas y Biomédicas
Facultad de Ciencias Básicas y Biomédicas
Resumen
La Enfermedad de Fabry forma parte de las enfermedades ligadas a errores innatos del metabolismo, del subgrupo de enfermedades lisosomales; y se caracteriza por la deficiencia de la actividad de la enzima lisosomal llamada a-galactosidasa A (a-Gal A), enzima que interviene en el catabolismo de los glicoesfingolípidos. El defecto enzimático lleva a la acumulación de Globotriaosilceramida (GL-3) y de otros glicoesfingolípidos.
Mediante la realización de una encuesta familiar se evaluó grado de autoconocimiento de los otros miembros de la familia que padece FD. Valorando de esta manera logramos estimar su calidad de vida mediante, estrato socioeconómico, nivel de educación, edad, género, profesiones. Además se presentan dos casos clínicos de pacientes que cursan con FD.
Fabry's disease is part of the diseases linked to inborn errors of metabolism, of the subgroup of lysosomal diseases; and is characterized by a deficiency in the activity of the lysosomal enzyme called a-galactosidase A (a-Gal A), an enzyme that is involved in the catabolism of glycosphingolipids. The enzyme defect leads to the accumulation of Globotriaosylceramide (GL-3) and other glycosphingolipids. By conducting a family survey, the degree of self-knowledge of the other family members suffering from FD was evaluated. In this way, we estimate their quality of life through socioeconomic status, level of education, age, gender, professions. In addition, there are two clinical cases of patients with FD.
Fabry's disease is part of the diseases linked to inborn errors of metabolism, of the subgroup of lysosomal diseases; and is characterized by a deficiency in the activity of the lysosomal enzyme called a-galactosidase A (a-Gal A), an enzyme that is involved in the catabolism of glycosphingolipids. The enzyme defect leads to the accumulation of Globotriaosylceramide (GL-3) and other glycosphingolipids. By conducting a family survey, the degree of self-knowledge of the other family members suffering from FD was evaluated. In this way, we estimate their quality of life through socioeconomic status, level of education, age, gender, professions. In addition, there are two clinical cases of patients with FD.
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Glicoesfingolípidos, Enfermedad lisosomal, Alfagalactosidasa, Síndrome Fabry Anderson, Lisosoma, Enfermedad De Fabry, Fabry, Glycosphingolipids, Lysosomal Disease, Alphagalactosidase, Fabry Anderson Syndrome, Lysosome, Fabry Disease
