A novel unbiased method reveals progressive podocyte globotriaosylceramide accumulation and loss with age in females with Fabry disease.
Fabry
GL3
biopsy
globotriaosylceramide
mosaicism
pathology
podocyte
Journal
Kidney international
ISSN: 1523-1755
Titre abrégé: Kidney Int
Pays: United States
ID NLM: 0323470
Informations de publication
Date de publication:
07 2022
07 2022
Historique:
received:
04
11
2021
revised:
15
02
2022
accepted:
08
03
2022
pubmed:
29
4
2022
medline:
28
6
2022
entrez:
28
4
2022
Statut:
ppublish
Résumé
While females can suffer serious complications of Fabry disease, most studies are limited to males to avoid confounding by mosaicism. Here, we developed a novel unbiased method for quantifying globotriaosylceramide (GL3) inclusion volume in affected podocytes (F+) in females with Fabry disease independent of mosaicism leading to important new observations. All podocytes in male patients with Fabry are F+. The probability of observing random profiles from F+ podocytes without GL3 inclusions (estimation error) was modeled from electron microscopic studies of 99 glomeruli from 40 treatment-naïve males and this model was applied to 28 treatment-naïve females. Also, podocyte structural parameters were compared in 16 age-matched treatment-naïve males and females with classic Fabry disease and 11 normal individuals. A 4
Identifiants
pubmed: 35483528
pii: S0085-2538(22)00341-6
doi: 10.1016/j.kint.2022.03.023
pmc: PMC9233139
mid: NIHMS1801226
pii:
doi:
Substances chimiques
Trihexosylceramides
0
globotriaosylceramide
71965-57-6
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
173-182Subventions
Organisme : NINDS NIH HHS
ID : U54 NS065768
Pays : United States
Informations de copyright
Copyright © 2022 International Society of Nephrology. Published by Elsevier Inc. All rights reserved.
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