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dc.rights.licenseopenen_US
dc.contributor.authorMAUHIN, Wladimir
dc.contributor.authorTEBANI, Abdellah
dc.contributor.authorAMELIN, Damien
dc.contributor.authorABILY-DONVAL, Lenaig
dc.contributor.authorLAMARI, Foudil
dc.contributor.authorLONDON, Jonathan
dc.contributor.authorDOUILLARD, Claire
dc.contributor.authorDUSSOL, Bertrand
dc.contributor.authorLEGUY-SEGUIN, Vanessa
dc.contributor.authorNOEL, Esther
dc.contributor.authorMASSEAU, Agathe
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorLACOMBE, Didier
dc.contributor.authorMAILLARD, Hélène
dc.contributor.authorBEKRI, Soumeya
dc.contributor.authorLIDOVE, Olivier
dc.contributor.authorBENVENISTE, Olivier
dc.date.accessioned2023-10-31T10:01:41Z
dc.date.available2023-10-31T10:01:41Z
dc.date.issued2022-02-24
dc.identifier.issn2077-0383en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/184565
dc.description.abstractEnFabry disease is an X-linked lysosomal disease in which defects in the alpha-galactosidase A enzyme activity lead to the ubiquitous accumulation of glycosphingolipids. Whereas the classic disease is characterized by neuropathic pain, progressive renal failure, white matter lesions, cerebral stroke, and hypertrophic cardiomyopathy (HCM), the non-classic phenotype, also known as cardiac variant, is almost exclusively characterized by HCM. Circulating sphingosine-1-phosphate (S1P) has controversially been associated with the Fabry cardiomyopathy. We measured serum S1P levels in 41 patients of the FFABRY cohort. S1P levels were higher in patients with a non-classic phenotype compared to those with a classic phenotype (200.3 [189.6−227.9] vs. 169.4 ng/mL [121.1−203.3], p = 0.02). In a multivariate logistic regression model, elevated S1P concentration remained statistically associated with the non-classic phenotype (OR = 1.03; p < 0.02), and elevated lysoGb3 concentration with the classic phenotype (OR = 0.95; p < 0.03). S1P levels were correlated with interventricular septum thickness (r = 0.46; p = 0.02). In a logistic regression model including S1P serum levels, phenotype, and age, age remained the only variable significantly associated with the risk of HCM (OR = 1.25; p = 0.001). S1P alone was not associated with cardiac hypertrophy but with the cardiac variant. The significantly higher S1P levels in patients with the cardiac variant compared to those with classic Fabry suggest the involvement of distinct pathophysiological pathways in the two phenotypes. S1P dosage could allow the personalization of patient management.
dc.language.isoENen_US
dc.rightsAttribution 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/us/*
dc.subject.enFabry disease
dc.subject.enHypertrophic cardiomyopathy
dc.subject.enSphingosine-1-phosphate
dc.subject.enFibrosis
dc.subject.enMigalastat
dc.title.enSphingosine-1-Phosphate Levels Are Higher in Male Patients with Non-Classic Fabry Disease.
dc.title.alternativeJ Clin Meden_US
dc.typeArticle de revueen_US
dc.identifier.doi10.3390/jcm11051233en_US
dc.subject.halSciences du Vivant [q-bio]/Médecine humaine et pathologieen_US
dc.identifier.pubmed35268324en_US
bordeaux.journalJournal of Clinical Medicineen_US
bordeaux.page1233en_US
bordeaux.volume11en_US
bordeaux.hal.laboratoriesMaladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211en_US
bordeaux.issue5en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
bordeaux.import.sourcepubmed
hal.popularnonen_US
hal.audienceInternationaleen_US
hal.exportfalse
workflow.import.sourcepubmed
dc.rights.ccCC BYen_US
bordeaux.COinSctx_ver=Z39.88-2004&amp;rft_val_fmt=info:ofi/fmt:kev:mtx:journal&amp;rft.jtitle=Journal%20of%20Clinical%20Medicine&amp;rft.date=2022-02-24&amp;rft.volume=11&amp;rft.issue=5&amp;rft.spage=1233&amp;rft.epage=1233&amp;rft.eissn=2077-0383&amp;rft.issn=2077-0383&amp;rft.au=MAUHIN,%20Wladimir&amp;TEBANI,%20Abdellah&amp;AMELIN,%20Damien&amp;ABILY-DONVAL,%20Lenaig&amp;LAMARI,%20Foudil&amp;rft.genre=article


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