Renal involvement in a patient with the chronic visceral subtype of acid sphingomyelinase deficiency resembles Fabry disease
Eline C. B. Eskes,
Martijn J. C. van derLienden,
Joris J. T. H. Roelofs,
Liffert Vogt,
Johannes M. F. G. Aerts,
Jan Aten,
Carla E. M. Hollak
Affiliations
Eline C. B. Eskes
Department of Endocrinology and Metabolism Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands
Martijn J. C. van derLienden
Department of Endocrinology and Metabolism Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands
Joris J. T. H. Roelofs
Department of Pathology Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands
Liffert Vogt
Amsterdam UMC, Amsterdam Cardiovascular Sciences Department of Internal Medicine, section Nephrology, University of Amsterdam Amsterdam The Netherlands
Johannes M. F. G. Aerts
Leiden Institute of Chemistry, Department of Medical Biochemistry University of Leiden Leiden The Netherlands
Jan Aten
Department of Pathology Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands
Carla E. M. Hollak
Department of Endocrinology and Metabolism Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands
Abstract Acid sphingomyelinase deficiency (ASMD) is a lysosomal storage disease (LSD) in which sphingomyelin accumulates due to deficient acid sphingomyelinase. In the chronic visceral subtype, organ manifestations are generally limited to the spleen, liver, and lungs. We report a male patient with the chronic visceral subtype who developed proteinuria and renal insufficiency at the age of 49. In renal tissue, foam cells were observed in the glomeruli as well as sphingomyelin accumulation within podocytes, mesangial cells, endothelial cells, and tubular epithelial cells. Although macrophages are the primary storage cells in both ASMD and Gaucher disease, comparison to the histopathological findings in Gaucher and Fabry disease revealed a diffuse storage pattern in multiple renal cell types, closer resembling the pattern found in Fabry disease.
