Revista Clínica Española (English Edition) Revista Clínica Española (English Edition)
Rev Clin Esp 2018;218:22-8 - Vol. 218 Num.1 DOI: 10.1016/j.rceng.2017.09.001
Review
The pathophysiology of Fabry disease
Fisiopatología de la enfermedad de Fabry
S. Olivera-Gonzáleza,, , C. Josa-Laordenb, M.A. Torralba-Cabezaa
a Unidad de Enfermedades Minoritarias, Hospital Clínico Universitario Lozano Blesa, Zaragoza, Spain
b Servicio de Medicina Interna, Hospital Clínico Universitario Lozano Blesa, Zaragoza, Spain
Received 07 December 2016, Accepted 12 June 2017
Abstract

Fabry disease is a lysosomal condition with systemic clinical expression, caused by the tissue deposit of globotriaosylceramide, due to a deficit in its degradation. As with most lysosomal diseases, the presence of a mutation in a gene does not explain the pathophysiological disorders shown by patients. We conducted a comprehensive review of the pathogenic mechanisms that occur in Fabry disease.

Resumen

La enfermedad de Fabry es una entidad lisosomal de expresión clínica sistémica, causada por el depósito tisular de globotriaosilceramida, debido a un déficit en su degradación. Como en la mayoría de las enfermedades lisosomales, la existencia de una mutación en un gen no explica las alteraciones fisiopatológicas que presentan los pacientes. Se realiza una revisión exhaustiva de los mecanismos patogénicos que acontecen en la enfermedad de Fabry.

Keywords
Fabry disease, Pathophysiology
Palabras clave
Enfermedad de Fabry, Fisiopatología
Rev Clin Esp 2018;218:22-8 - Vol. 218 Num.1 DOI: 10.1016/j.rceng.2017.09.001
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