TY - JOUR
T1 - Renal involvement in a patient with the chronic visceral subtype of acid sphingomyelinase deficiency resembles Fabry disease
AU - Eskes, Eline C. B.
AU - van der Lienden, Martijn J. C.
AU - Roelofs, Joris J. T. H.
AU - Vogt, Liffert
AU - Aerts, Johannes M. F. G.
AU - Aten, Jan
AU - Hollak, Carla E. M.
N1 - Funding Information: The authors are grateful for the assistance of Per W. B. Larsen and Sanne van der Niet from the Electron Microscopy Centre Amsterdam in measuring the periodicity of the storage material in renal tissue of ASMD, Gaucher and Fabry. Publisher Copyright: © 2021 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.
PY - 2021
Y1 - 2021
N2 - 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.
AB - 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.
KW - Fabry disease
KW - Gaucher disease
KW - Niemann-Pick disease
KW - acid sphingomyelinase deficiency
KW - histopathology
KW - renal manifestations
UR - http://www.scopus.com/inward/record.url?scp=85119112367&partnerID=8YFLogxK
U2 - https://doi.org/10.1002/jmd2.12242
DO - https://doi.org/10.1002/jmd2.12242
M3 - Article
C2 - 34765393
SN - 2192-8304
VL - 62
SP - 15
EP - 21
JO - JIMD reports
JF - JIMD reports
IS - 1
ER -