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Skin Globotriaosylceramide 3 Load Is Increased in Men with Advanced Fabry Disease
BACKGROUND: The X-chromosomally linked life-limiting Fabry disease (FD) is associated with deposits of the sphingolipid globotriaosylceramide 3 (Gb3) in various tissues. Skin is easily accessible and may be used as an additional diagnostic and follow-up medium. Our aims were to visualize skin Gb3 de...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5112934/ https://www.ncbi.nlm.nih.gov/pubmed/27851774 http://dx.doi.org/10.1371/journal.pone.0166484 |
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author | Üçeyler, Nurcan Schröter, Nils Kafke, Waldemar Kramer, Daniela Wanner, Christoph Weidemann, Frank Sommer, Claudia |
author_facet | Üçeyler, Nurcan Schröter, Nils Kafke, Waldemar Kramer, Daniela Wanner, Christoph Weidemann, Frank Sommer, Claudia |
author_sort | Üçeyler, Nurcan |
collection | PubMed |
description | BACKGROUND: The X-chromosomally linked life-limiting Fabry disease (FD) is associated with deposits of the sphingolipid globotriaosylceramide 3 (Gb3) in various tissues. Skin is easily accessible and may be used as an additional diagnostic and follow-up medium. Our aims were to visualize skin Gb3 deposits in FD patients applying immunofluorescence and to determine if cutaneous Gb3 load correlates with disease severity. METHODS: At our Fabry Center for Interdisciplinary Therapy we enrolled 84 patients with FD and 27 healthy controls. All subjects underwent 5-mm skin punch biopsy at the lateral lower leg and the back. Skin samples were processed for immunohistochemistry using antibodies against CD77 (i.e. Gb3). Cutaneous Gb3 deposition was quantified in a blinded manner and correlated to clinical data. RESULTS: We found that Gb3 load was higher in distal skin of male FD patients compared to healthy controls (p<0.05). Men (p<0.01) and women (p<0.05) with a classic FD phenotype had higher distal skin Gb3 load than healthy controls. Men with advanced disease as reflected by impaired renal function, and men and women with small fiber neuropathy had more Gb3 deposits in distal skin samples than males with normal renal function (p<0.05) and without small fiber neuropathy. Gb3 deposits were not different between patients with and without enzyme replacement therapy. CONCLUSIONS: Immunofluorescence on minimally invasive skin punch biopsies may be useful as a tool for assessment and follow-up in FD patients. |
format | Online Article Text |
id | pubmed-5112934 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | Public Library of Science |
record_format | MEDLINE/PubMed |
spelling | pubmed-51129342016-12-08 Skin Globotriaosylceramide 3 Load Is Increased in Men with Advanced Fabry Disease Üçeyler, Nurcan Schröter, Nils Kafke, Waldemar Kramer, Daniela Wanner, Christoph Weidemann, Frank Sommer, Claudia PLoS One Research Article BACKGROUND: The X-chromosomally linked life-limiting Fabry disease (FD) is associated with deposits of the sphingolipid globotriaosylceramide 3 (Gb3) in various tissues. Skin is easily accessible and may be used as an additional diagnostic and follow-up medium. Our aims were to visualize skin Gb3 deposits in FD patients applying immunofluorescence and to determine if cutaneous Gb3 load correlates with disease severity. METHODS: At our Fabry Center for Interdisciplinary Therapy we enrolled 84 patients with FD and 27 healthy controls. All subjects underwent 5-mm skin punch biopsy at the lateral lower leg and the back. Skin samples were processed for immunohistochemistry using antibodies against CD77 (i.e. Gb3). Cutaneous Gb3 deposition was quantified in a blinded manner and correlated to clinical data. RESULTS: We found that Gb3 load was higher in distal skin of male FD patients compared to healthy controls (p<0.05). Men (p<0.01) and women (p<0.05) with a classic FD phenotype had higher distal skin Gb3 load than healthy controls. Men with advanced disease as reflected by impaired renal function, and men and women with small fiber neuropathy had more Gb3 deposits in distal skin samples than males with normal renal function (p<0.05) and without small fiber neuropathy. Gb3 deposits were not different between patients with and without enzyme replacement therapy. CONCLUSIONS: Immunofluorescence on minimally invasive skin punch biopsies may be useful as a tool for assessment and follow-up in FD patients. Public Library of Science 2016-11-16 /pmc/articles/PMC5112934/ /pubmed/27851774 http://dx.doi.org/10.1371/journal.pone.0166484 Text en © 2016 Üçeyler et al http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Research Article Üçeyler, Nurcan Schröter, Nils Kafke, Waldemar Kramer, Daniela Wanner, Christoph Weidemann, Frank Sommer, Claudia Skin Globotriaosylceramide 3 Load Is Increased in Men with Advanced Fabry Disease |
title | Skin Globotriaosylceramide 3 Load Is Increased in Men with Advanced Fabry Disease |
title_full | Skin Globotriaosylceramide 3 Load Is Increased in Men with Advanced Fabry Disease |
title_fullStr | Skin Globotriaosylceramide 3 Load Is Increased in Men with Advanced Fabry Disease |
title_full_unstemmed | Skin Globotriaosylceramide 3 Load Is Increased in Men with Advanced Fabry Disease |
title_short | Skin Globotriaosylceramide 3 Load Is Increased in Men with Advanced Fabry Disease |
title_sort | skin globotriaosylceramide 3 load is increased in men with advanced fabry disease |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5112934/ https://www.ncbi.nlm.nih.gov/pubmed/27851774 http://dx.doi.org/10.1371/journal.pone.0166484 |
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