Aims: To improve diagnosis and treatment, we characterized Fabry disease combined with IgA nephropathy and its response to treatment clinically and pathologically in Chinese patients.
Materials and methods: Clinical and pathological characteristics of 6 Chinese patients with renal biopsy-proven Fabry disease combined with IgA nephropathy were retrospectively analyzed.
Results: There were 4 males and 2 females in this study. All of the 6 patients presented with proteinuria. Microscopic hematuria was observed in case 4. Extrarenal symptoms included: acroparesthesia in case 1, 2, and 6, hypohidrosis in case 6 and angiokeratomas with hearing loss in case 3. By light microscopy, podocyte distension, with vacuolization, mesangial expansion, and interstitial lesions were found in all 6 cases; and focal segmental glomerulosclerosis was observed in 3 cases. Immunofluorescence microscopy showed deposition of IgA or predominant IgA with C3 in the mesangium. By electron microscopy, myelin figures and/or zebra bodies as well as electron-dense materials, were observed in the mesangium in the 6 cases. After admission and treatment with angiotensin converting enzyme inhibitors (ACEI) or angiotensin receptor blocker (ARB) together with immunosuppressant, glomerular filtration rate (GFR) decreased in 3 cases while it increased in the other 3 without statistical differences.
Conclusions: The clinical and pathological features of Fabry disease combined with IgA nephropathy are diverse. Therefore, it is important to combine family history, clinical manifestations, α-galactosidase A activity and pathological features, especially ultrastructural changes, to improve the diagnosis and treatment of the disease. .