Renal involvement in a patient with the chronic visceral subtype of acid sphingomyelinase deficiency resembles Fabry disease.
Fabry disease
Gaucher disease
Niemann‐Pick disease
acid sphingomyelinase deficiency
histopathology
renal manifestations
Journal
JIMD reports
ISSN: 2192-8304
Titre abrégé: JIMD Rep
Pays: United States
ID NLM: 101568557
Informations de publication
Date de publication:
Nov 2021
Nov 2021
Historique:
received:
03
04
2021
revised:
02
06
2021
accepted:
06
07
2021
entrez:
12
11
2021
pubmed:
13
11
2021
medline:
13
11
2021
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 34765393
doi: 10.1002/jmd2.12242
pii: JMD212242
pmc: PMC8574181
doi:
Types de publication
Case Reports
Langues
eng
Pagination
15-21Informations de copyright
© 2021 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.
Déclaration de conflit d'intérêts
Martijn van der Lienden, Johannes Aerts and Jan Aten have no competing interests to declare. Eline Eskes is involved as a sub‐investigator in a pre‐marketing study with Sanofi Genzyme. Joris Roelofs has had incidental consultancy agreements with Sanofi Genzyme. Liffert Vogt reports having consultancy agreements with AstraZeneca, Sanofi Genzyme and Vifor Pharma. Carla Hollak is involved in pre‐marketing studies with Sanofi Genzyme, Protalix and Idorsia.
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