Open AccessRenal involvement in a patient with the chronic visceral subtype of acid sphingomyelinase deficiency resembles Fabry disease
Author(s) -
Eskes Eline C. B.,
Lienden Martijn J. C.,
Roelofs Joris J. T. H.,
Vogt Liffert,
Aerts Johannes M. F. G.,
Aten Jan,
Hollak Carla E. M.
Publication year - 2021
Publication title -
jimd reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.412
H-Index - 25
ISSN - 2192-8312
DOI - 10.1002/jmd2.12242
Subject(s) - fabry disease , acid sphingomyelinase , sphingomyelin , fabry's disease , pathology , disease , lysosomal storage disease , spleen , globotriaosylceramide , sphingolipid , kidney , medicine , biology , endocrinology , cholesterol , biochemistry
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.