Abstract: SA-PO808
The Utility of Obtaining Kidney Biopsy in Female Patients with Fabry Disease
Session Information
- Genetic Diseases: Glomerulopathies - II
November 04, 2023 | Location: Exhibit Hall, Pennsylvania Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- 1202 Genetic Diseases of the Kidneys: Non-Cystic
Authors
- Bedros, Victor, University of Kansas School of Medicine, Kansas City, Kansas, United States
- Amiotte, Brenden, University of Kansas School of Medicine, Kansas City, Kansas, United States
- Hamdan, Hana, Kansas City University, Kansas City, Missouri, United States
- Tuffaha, Ahmad M., University of Kansas School of Medicine, Kansas City, Kansas, United States
Background
Fabry Disease (FD) is an X-linked inherited disorder caused by alpha-galactosidase-A enzyme deficiency resulting in the accumulation of the large fatty substrate Globotriaosylceramide (GL-3) in different cell types and organs. FD affects both males and females, but males usually develop symptoms at an earlier age and have more severe manifestations. Male patients with FD should be started on treatment at time of diagnosis. The decision to treat female patients with FD has been mostly determined by the severity of manifestations. Obtaining kidney biopsies in female patients with FD to support the decision to start treatment with enzyme replacement therapy or chaperone-based therapy remains controversial.
Methods
14 female patients with FD underwent kidney biopsy at the University of Kansas Hospital shortly after being diagnosed with FD between 2011 and 2023. The age range was from 10 to 55 years. Serum creatinine, urine protein quantification, genetic mutation and clinical manifestations were recorded at the time of biopsy.
Results
Only one kidney biopsy revealed normal findings. 11 kidney biopsies revealed Fabry nephropathy as the sole pathology with light microscopy showing vacuolation in podocytes, glomeruli and tubular epithelial cells and electron microscopy showing lamellated inclusions. 6 of the 11 patients with Fabry nephropathy had microalbuminuria, 2 of which had abnormal kidney function. One kidney biopsy revealed crescentic glomerulonephritis coexisting with Fabry nephropathy in a patient with abnormal kidney function and non-nephrotic range proteinuria. Another kidney biopsy revealed IgA glomerulonephritis coexisting with Fabry nephropathy in a patient with abnormal kidney function and nephrotic range proteinuria.
Conclusion
This case series shows that Fabry nephropathy in female patients with FD is common despite most patients presenting with normal kidney function and no or minimal microalbuminuria. These findings suggest a beneficial role for kidney biopsy in female patients with FD to help guide treatment plan and to rule out coexisting conditions.