Renal involvement in a patient with the chronic visceral subtype of acid sphingomyelinase deficiency resembles Fabry disease

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...

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Autores principales:	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
Formato:	article
Lenguaje:	EN
Publicado:	Wiley 2021
Materias:	acid sphingomyelinase deficiency Fabry disease Gaucher disease histopathology Niemann‐Pick disease renal manifestations Diseases of the endocrine glands. Clinical endocrinology RC648-665 Genetics QH426-470
Acceso en línea:	https://doaj.org/article/0d8fd9418c5847569222bd253ca6e84e
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spelling	oai:doaj.org-article:0d8fd9418c5847569222bd253ca6e84e2021-11-08T13:27:18ZRenal involvement in a patient with the chronic visceral subtype of acid sphingomyelinase deficiency resembles Fabry disease2192-831210.1002/jmd2.12242https://doaj.org/article/0d8fd9418c5847569222bd253ca6e84e2021-11-01T00:00:00Zhttps://doi.org/10.1002/jmd2.12242https://doaj.org/toc/2192-8312Abstract 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.Eline C. B. EskesMartijn J. C. van derLiendenJoris J. T. H. RoelofsLiffert VogtJohannes M. F. G. AertsJan AtenCarla E. M. HollakWileyarticleacid sphingomyelinase deficiencyFabry diseaseGaucher diseasehistopathologyNiemann‐Pick diseaserenal manifestationsDiseases of the endocrine glands. Clinical endocrinologyRC648-665GeneticsQH426-470ENJIMD Reports, Vol 62, Iss 1, Pp 15-21 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	acid sphingomyelinase deficiency Fabry disease Gaucher disease histopathology Niemann‐Pick disease renal manifestations Diseases of the endocrine glands. Clinical endocrinology RC648-665 Genetics QH426-470
spellingShingle	acid sphingomyelinase deficiency Fabry disease Gaucher disease histopathology Niemann‐Pick disease renal manifestations Diseases of the endocrine glands. Clinical endocrinology RC648-665 Genetics QH426-470 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 Renal involvement in a patient with the chronic visceral subtype of acid sphingomyelinase deficiency resembles Fabry disease
description	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.
format	article
author	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
author_facet	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
author_sort	Eline C. B. Eskes
title	Renal involvement in a patient with the chronic visceral subtype of acid sphingomyelinase deficiency resembles Fabry disease
title_short	Renal involvement in a patient with the chronic visceral subtype of acid sphingomyelinase deficiency resembles Fabry disease
title_full	Renal involvement in a patient with the chronic visceral subtype of acid sphingomyelinase deficiency resembles Fabry disease
title_fullStr	Renal involvement in a patient with the chronic visceral subtype of acid sphingomyelinase deficiency resembles Fabry disease
title_full_unstemmed	Renal involvement in a patient with the chronic visceral subtype of acid sphingomyelinase deficiency resembles Fabry disease
title_sort	renal involvement in a patient with the chronic visceral subtype of acid sphingomyelinase deficiency resembles fabry disease
publisher	Wiley
publishDate	2021
url	https://doaj.org/article/0d8fd9418c5847569222bd253ca6e84e
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Renal involvement in a patient with the chronic visceral subtype of acid sphingomyelinase deficiency resembles Fabry disease

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