Silicon nephropathy mimicking Fabry's disease

Area of Science:

• Nephrology
• Pulmonary Medicine
• Toxicology

Background:

• Silicolipoproteinosis is a lung disease affecting coal miners.
• Proteinuria and hematuria can indicate kidney damage.

Observation:

• A surface coal miner with acute silicolipoproteinosis presented with proteinuria and hematuria.
• Renal biopsy showed thickened glomerular basement membranes, foot process effacement, and electron-dense lamellar inclusions.

Findings:

• The renal findings were initially suggestive of Fabry disease.
• Normal plasma alpha-galactosidase A levels and urinary glycosphingolipids excluded Fabry disease.
• Electron-dense lamellar inclusions can be present in nephropathy associated with silicosis.

Implications:

• This case highlights the importance of considering silicosis-related nephropathy in patients with similar renal findings.
• Electron microscopy findings can be misleading and require correlation with clinical and biochemical data.
• Occupational exposure to silica dust can lead to multisystemic health issues, including renal impairment.