Phenotypic Variability of Kidney Involvement in Fabry Disease—Lessons from a Family Study

Résumé fourni par la source

Fabry disease is an X-linked lysosomal storage disease that leads to the intracellular ac-cumulation of glycosphingolipids in many tissues and fluids, including the kidney. We report a single family with Fabry disease that includes 7 patients carrying the path-ogenic variant c.797A>C in the GLA gene, with remarkable variability of kidney in-volvement, assessed based on the clinical, biological and histological data. The patients were monitored for a period of 2–9 years, and all of them received enzyme replacement therapy. This study provides valuable insights into kidney involvement evaluated through kidney biopsy, personalized management strategies for family members ac-cording with their phenotype, and long-term follow-up of the kidney function. We un-derscore the importance of molecular screening of the GLA gene in all family members for early identification of the disease and early initiation of specific treatment that can potentially prevent or delay the progression of the disease.

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