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The Diagnostic and Therapeutic Challenges of Fabry Nephropathy—A Review of the Literature, Illustrated by a Clinical Case

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Open Journal of Nephrology 2023年第4期13卷 349-368页

作者： Stefan Van Cauwelaert Caroline Geers dominique vandervelde Esther Scheirlynck Alexander Gheldof Karl-Martin Wissing Department of Nephrology and Arterial Hypertension Universitair Ziekenhuis Brussel (UZ Brussel) Vrije Universiteit Brussel (VUB) Brussels Belgium Department of Pathology Universitair Ziekenhuis Brussel (UZ Brussel) Vrije Universiteit Brussel (VUB) Brussels Belgium Department of Nephrology H&ocircpitaux Iris-Sud (HIS) Brussels Belgium Department of Cardiology Universitair Ziekenhuis Brussel (UZ Brussel) Vrije Universiteit Brussel (VUB) Brussels Belgium Department of Medical Genetics Universitair Ziekenhuis Brussel (UZ Brussel) Vrije Universiteit Brussel (VUB) Brussels Belgium

Fabry Disease (FD) is a rare lysosomal storage disorder characterized by α-galactosidase A (α-Gal A) enzyme deficiency, resulting in glycosphingolipid accumulation. Its clinical spectrum ranges from severe classical to milder nonclassical or late-onset phenotypes. Renal involvement, termed Fabry Nephropathy (FN), can vary from mild proteinuria to kidney failure. FN diagnosis, especially in nonclassical cases with a genetic Variant of Unknown Significance (VUS) in the GLA gene, poses challenges. Measurement of plasma lyso-Gb3 levels is gaining importance in FN diagnosis, while renal biopsy with electron microscopy remains the gold standard in equivocal cases. Treatment options include Enzyme Replacement Therapy (ERT) and chaperone therapy, demanding careful candidate selection due to high treatment costs. Research has predominantly focused on classical FD, revealing modest treatment benefits. However, evidence for treating patients, especially females, with milder nonclassical or late-onset phenotypes is scarce, emphasizing the necessity for placebo-controlled clinical trials in these subgroups. Meanwhile, participation in global FD registries can improve our understanding of disease management. Case Presentation: A woman in her late sixties presented with moderate chronic kidney disease, mild proteinuria, and microscopic hematuria. Her family history included a prevalence of renal, cardiac and cerebrovascular diseases. Kidney biopsy revealed characteristic myelin figures and zebra bodies in podocytes, strongly suggestive of FN. Genetic analysis identified a VUS in the GLA gene (c.655A > C, ***219Leu), introducing diagnostic uncertainty. Further investigations revealed severe cardiac involvement. Considering the recurring difficulty presented by the finding of a VUS in the GLA gene during FN assessments, along with the uncertainty regarding the need for treatment in nonclassical or late-onset FD phenotypes, especially in women, this case becomes a central focus for

关键词： Fabry Disease Fabry Nephropathy Variants of Unknown Significance Diagnosis Treatment Selection Lysosomal Storage Disorder α-Galactosidase A Glycosphingolipid Accumulation Enzyme Replacement Therapy Migalastat

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The Diagnostic and Therapeutic Challenges of Fabry Nephropathy—A Review of the Literature, Illustrated by a Clinical Case

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Open Journal of Nephrology（肾脏病） 2023年第4期

作者： Stefan Van Cauwelaert Caroline Geers dominique vandervelde Esther Scheirlynck Alexander Gheldof Karl-Martin Wissing

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