Enfermedad de Fabry con compromiso renal: reporte de caso

Abstract

Introduction: Fabry disease is a lysosomal genetic disorder characterized by the accumulation of globotriaosylceramide (GL-3) due to a deficiency of the enzyme alpha-galactosidase A, primarily in organs such as the kidneys, heart, and nervous system. It offers a valuable perspective on a rare pathology and underscores the relevance of accurate and early diagnoses. Clinical Manifestations: This article presents the case of a 24-year-old woman with lower extremity edema, elevated proteinuria, and impaired renal function, typical symptoms of Fabry nephropathy. A definitive diagnosis was established through renal biopsy and electron microscopy, which revealed lysosomal inclusions and characteristic zebra bodies of Fabry disease. Initially, treatment with prednisone and losartan was prescribed, achieving a reduction in proteinuria levels and normalization of creatinine, reflecting a positive response to supportive renal treatment. Conclusions: The importance of a comprehensive clinical evaluation, supported by histopathology analysis—especially electron microscopy—is highlighted for detecting characteristic signs of lysosomal accumulation and progressive renal damage. When combined with enzymatic tests, genetic testing, and renal biopsies, this approach enables a more accurate and earlier diagnosis, which is essential to anticipate progression toward chronic kidney disease.