Abstract: SA-PO0630
A Case Report of Fabry Disease Combined with IgAN
Session Information
- Monogenic Kidney Diseases: Tubular and Other
November 08, 2025 | Location: Exhibit Hall, Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- 1201 Genetic Diseases of the Kidneys: Monogenic Kidney Diseases
Authors
- Xu, Cong, Huazhong University of Science and Technology Tongji Medical College Tongji Hospital, Wuhan, Hubei, China
- Han, Min, Huazhong University of Science and Technology Tongji Medical College Tongji Hospital, Wuhan, Hubei, China
Introduction
The coexistence of Fabry disease and IgA nephropathy is relatively rare, and coexisting Fabry disease may go unrecognized due to subtle clinical manifestations. To improve the accuracy of diagnosis and treatment, we report a case of Fabry disease combined with IgA and studied the clinical and pathological characteristics of this patient.
Case Description
A 59-year-old woman presented with proteinuria and hematuria. After admission, she was diagnosed with IgA nephropathy but Fabry disease was not suspected. Subsequent immunofluorescence showed positive staining for IgA in the mesangial area, confirming the diagnosis of IgA nephropathy. At the same time, under light microscopy, some segments were observed to have podocyte swelling and foam changes. Electron microscopy examination showed that varying amounts of "myelin figures" could be seen within most podocytes, with foot processes fused, suggesting that the patient may have Fabry disease. Based on the decreased levels of α-galactosidase A (α-Gal A) and the increased levels of globotriaosylsphingosine (Lyso-Gb3), along with the detection of one pathogenic variant associated with Fabry disease (c.335G>A p.Arg112His), a diagnosis of coexisting Fabry disease was ultimately established. After six months of ERT(enzyme replacement therapy), irbesartan and hydroxychloroquine sulfate treatment, the urine protein of the patient turned negative.
Discussion
The results of kidney biopsy play a crucial role in the diagnosis of IgA coexisting Fabry disease. The typical histological features of Fabry disease include podocyte swelling and foam changes. Electron microscopy results show that varying amounts of "myeloid figures" or "zebra bodies" are visible within most podocytes.However, this is not a diagnostic criterion. It is vital to improve the detection rate of the disease by combining family history, clinical manifestations, α-Gal A activity, and genetic testing.
Kidney biopsy specimens in the patient.