Gaucher Glomerulopathy
A. Brad Farris, III, MD
Key Facts
Terminology
Gaucher cells accumulate in renal parenchyma
Etiology/Pathogenesis
Glucosylceramide accumulation 2° to ↓ glucosylceramidase activity
Clinical Issues
Proteinuria, hematuria, nephrotic syndrome
Microscopic Pathology
Gaucher cells in glomerular capillaries, mesangium, interstitium
PAS(+), Sudan black(+), oil red O(+)
“Wrinkled paper” inclusions
EM: Gaucher cells have membrane-bound elongated bodies & tubules with 60-80 nm diameter fibrils
No specific IF findings
 A glomerulus shows a large Gaucher cell in a glomerular capillary loop  in a 54-year-old woman with Gaucher disease, nephrotic syndrome (7 g/d), and serum creatinine 1.0 mg/dL. (Courtesy A. Cohen, MD.) |
 In a 54-year-old woman with Gaucher disease, a glomerular capillary loop contains a large Gaucher cell  , which displays a cytoplasmic “wrinkled paper” appearance. (Courtesy A. Cohen, MD.) |
TERMINOLOGY
Definitions
Accumulation of Gaucher cells in renal parenchyma, particularly in glomerular capillaries
ETIOLOGY/PATHOGENESIS
Developmental Anomaly
Accumulation of lipid storage material, most notably glucosylceramide
Reduced activity of lysosomal enzyme glucosylceramidase
Glucosylceramidase typically catalyzes hydrolysis of glucosylceramide into glucose and ceramide
Renal disease mainly occurs after splenectomy
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