Abstract: FR-PO0699
Fabry Disease Presenting with Collapsing Glomerulopathy and Advanced CKD: Diagnostic Confirmation by Electron Microscopy in the Absence of Genetic Testing
Session Information
- Glomerular Diseases: Membranous Nephropathy, FSGS, and Podocytopathies
October 23, 2026 | Location: Exhibit Hall A, Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Glomerular Diseases
- 1402 Glomerular Diseases: Clinical, Outcomes, and Therapeutics
Authors
- Khedari, Mohamad, Southeast Health, Dothan, Alabama, United States
- Sivakumar, Abinaya, Southeast Health, Dothan, Alabama, United States
- Naveed, Osama Kunwer, Southeast Health, Dothan, Alabama, United States
- Sharma, Siddharth, Southeast Health, Dothan, Alabama, United States
- Thotli, Namitha, Southeast Health, Dothan, Alabama, United States
Introduction
Fabry disease is an X-linked lysosomal storage disorder caused by deficiency of alpha-galactosidase A, leading to systemic accumulation of globotriaosylceramide and progressive multiorgan damage. Renal involvement commonly presents with proteinuria and chronic kidney disease. Collapsing glomerulopathy is an uncommon histopathologic pattern in Fabry disease and may contribute to accelerated renal decline. Electron microscopy remains essential for definitive ultrastructural diagnosis when genetic testing is unavailable
Case Description
A 38-year-old male from sub-Saharan Africa with hypertension and newly recognized advanced chronic kidney disease presented with headache, right ocular pressure, bilateral hand paresthesias, and decreased sweating. Initial laboratory revealed serum CR of 3.87 mg/dL with an eGFR of 13.9. UA demonstrated 1+ hematuria and 1+ proteinuria, with urine AL-CR ratio of 654 mg/g and PTN-CR ratio of 976 mg/g. Renal ultrasound showed bilaterally small, echogenic kidneys.
Echocardiography demonstrated mild left ventricular hypertrophy.
Kidney biopsy revealed focal and collapsing segmental glomerulosclerosis with severe chronic changes. Approximately 70% interstitial fibrosis and tubular atrophy were present. Immunofluorescence was completely negative.pathologies are show below.
Discussion
This case illustrates Fabry disease. The presence of zebra bodies on electron microscopy provides strong diagnostic evidence in the absence of genetic testing. Collapsing glomerulopathy may represent an aggressive renal phenotype contributing to rapid progression to ESRD. The patient’s systemic symptoms, including neuropathic pain and hypohidrosis, further support multisystem involvement. Recognition of this presentation is critical, as early diagnosis may allow timely initiation of enzyme replacement therapy and genetic counseling.