Abstract: SA-PO0148
The Zebra in the Kidney: A Rare Diagnosis of Fabry Disease Hidden in Plain Sight
Session Information
- Tubular, Metabolic, and Systemic Noncystic Genetic Kidney Diseases
October 24, 2026 | Location: Exhibit Hall A, Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- 1202 Genetic Diseases of the Kidneys: Non-Cystic (Complex and Non-Cystic Monogenic)
Authors
- Senthilrajan, Ashwin Kumar, Laredo Medical Center, Laredo, Texas, United States
- Gunturu, Akshay, Laredo Medical Center, Laredo, Texas, United States
- Lugo-Guzman, Efrain G., Laredo Medical Center, Laredo, Texas, United States
- Snyder, Grace, Laredo Medical Center, Laredo, Texas, United States
- Zavala, Julio Paolo, Laredo Medical Center, Laredo, Texas, United States
Group or Team Name
- Hope
Introduction
Fabry disease is a rare X-linked lysosomal storage disorder caused by a deficiency of the enzyme alpha-galactosidase A. This deficiency leads to the progressive accumulation of globotriaosylceramide within lysosomes of multiple organs. Renal involvement is common and may manifest as proteinuria, microscopic hematuria, progressive CKD, and eventually ESRD. Diagnosis is often delayed because the presentation may mimic more common causes of CKD and proteinuria. Renal biopsy remains an important diagnostic tool, especially in patients with unexplained proteinuria and declining renal function. Characteristic findings include vacuolated "foamy" podocytes on light microscopy and lamellated myelin figures or zebra bodies on electron microscopy.
Case Description
A 40-year-old male with no known family history of renal or genetic disorders was initially hospitalized for evaluation of stroke-like symptoms. During the hospitalization, was found to have elevated serum creatinine. Urinalysis revealed 3+ proteinuria, 1+ occult blood, and 2+ glucosuria. On further evaluation the patient was noted to have persistent microscopic hematuria on repeat urinalysis. Secondary workup for hematuria and chronic kidney disease was also performed. Laboratory evaluation revealed nephrotic-range proteinuria with approximately 5 g of proteinuria. Additional studies showed elevated free kappa and free lambda light chains; however, no monoclonal predominance was identified. Given persistent hematuria, nephrotic-range proteinuria, and progressive renal failure, a renal biopsy was performed. The biopsy findings, particularly the foamy podocytes and zebra bodies on electron microscopy, strongly supported Fabry nephropathy with global glomerulosclerosis.
Discussion
This case underscores the importance of considering Fabry disease in young patients with unexplained chronic kidney disease, persistent microscopic hematuria, nephrotic-range proteinuria, and cerebrovascular events, even without a known family history. The renal biopsy revealed classic findings of Fabry nephropathy, such as foamy podocytes and zebra bodies, highlighting the need for a broad differentials in proteinuric kidney disease. Early diagnosis is crucial for initiating targeted therapies like enzyme replacement therapy and pharmacologic chaperone therapy to potentially slow progression. Genetic and enzyme activity testing are recommended for confirmation and family screening.