, A 34-year-old woman presented with a 1-month history of eyelid edema and facial rash. Serum albumin, globulin, and creatinine were recorded at 25.7 g/L (reference range, 40–55 g/L), 31.9 g/L (reference range, 20–35 g/L), and 146 μmol/L (reference range, 0–135 μmol/L), respectively. Urinalysis indicated proteinuria and hematuria, with 24-hour urine protein measured at 8.7 g. Complement levels C3 and C4 were reduced, registering 46.3 mg/dL (reference range, 90–180 mg/dL) and 6 mg/dL (reference range, 10–40 mg/dL), respectively. Antinuclear antibodies were positive, and anti-double-stranded DNA titer was elevated at 243 IU/mL. Hematological assessment revealed anemia and leukopenia, with hemoglobin at 98 g/L and leukocyte count at 3.4 × 109/L. Elevated antiphospholipid and anti-β2 glycoprotein 1 antibody levels, both exceeding 300 AU/mL, were noted without evidence of thrombosis. A diagnosis of systemic lupus erythematosus was established, leading to the performance of a renal biopsy prior to initiating therapy.
Renal biopsy findings included extensive and severe proliferation of mesangial cells and matrix, segmental endocapillary hypercellularity, cellular crescents, and swelling observed in some renal tubular epithelial cells (Fig. 1A). Immunofluorescence studies demonstrated widespread spherical deposits of immunoglobulin G (IgG) (2+), IgM (3+), IgA (2+), C3c (3+), C1q (2+), and C4c (+) localized in the mesangial area and capillary wall (Fig. 1B), corroborating a diagnosis of lupus nephritis (International Society of Nephrology/Renal Pathology Society Classification IV) with an activity index of 10 and a chronicity index of 3. Electron microscopy confirmed these findings, illustrating mesangial cell and matrix proliferation, electron-dense deposits situated in subepithelial, subendothelial, and mesangial regions (Fig. 1C), as well as podocyte cytoplasmic swelling, vacuolar degeneration, and the occurrence of zebra bodies (Fig. 1D). Subsequently, genomic DNA was isolated from the patient’s peripheral blood, and direct sequencing of the exon coding region of the GLA gene was performed and aligned with the reference sequence, which showed no pathogenic genetic variations.
Zebra bodies, often associated with Fabry disease or drug-induced phospholipidosis from agents like HCQ or amiodarone, were detected in this patient, who had no history of these drugs prior to biopsy. Some hypotheses suggest that sphingomyelin accumulation may result in the proliferation of antigen-stimulated B cells, potentially contributing to immune dysfunction and autoimmune diseases, though the underlying mechanisms remain unclear. This case represents a rare instance of lupus nephritis with zebra bodies, without Fabry disease or prior hydroxychloroquine use. The etiology of zebra body formation is still uncertain, requiring further research.
This study was approved by the Institutional Review Board of Binzhou Medical University Hospital (No. 2024 KYLL-166). Written informed consent was obtained for the publication of clinical data, including images.
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