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Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease

التفاصيل البيبلوغرافية
العنوان:	Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease
المؤلفون:	Marie Matignon, Olivier Benveniste, Agathe Masseau, Kim-Heang Ly, Didier Lacombe, Gérard Besson, François Maillot, Christian Lavigne, D. Amelin, Esther Noel, Foudil Lamari, Catherine Caillaud, Wladimir Mauhin, Hélène Maillard, Olivier Lidove, C. Montagner, Thierry Zenone, Marjolaine Willems, Vanessa Leguy-Seguin, Pauline D’Halluin, Bertrand Dussol, Fabien Labombarda, Claire Douillard
المساهمون:	Groupe Hospitalier Diaconesses Croix Saint-Simon, Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Service de médecine interne [CHU Pitié-Salpétrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Service de Biochimie Métabolique [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université (SU), Service de biochimie métabolique [CHU Necker], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut Necker Enfants-Malades (INEM - UM 111 (UMR 8253 / U1151)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), Hôpital Jeanne de Flandres, Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Aix Marseille Université (AMU), Centre d'Investigation Clinique [Hôpital de la Conception - APHM] (CIC), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôpital de la Conception [CHU - APHM] (LA CONCEPTION), Assistance Publique - Hôpitaux de Marseille (APHM), Service de médecine interne et immunologie clinique (SOC 1) [CHU de Dijon], Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Le CHCB, Centre Hospitalier de la Côte Basque, CHU Strasbourg, Centre hospitalier de Valence, Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-IFR10, Groupe Henri Mondor-Albert Chenevier, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Hôpital Albert Chenevier, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Imagerie et cerveau (iBrain - Inserm U1253 - UNIV Tours ), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire [Grenoble] (CHU), CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Service de médecine interne [Nantes], Université de Nantes (UN)-Hôtel-Dieu-Centre hospitalier universitaire de Nantes (CHU Nantes), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), CHU Bordeaux [Bordeaux], Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) (U1211 INSERM/MRGM), Université de Bordeaux (UB)-Groupe hospitalier Pellegrin-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Claude Huriez [Lille], CHU Lille, Service de Département de médecine interne et immunologie clinique [CHU Pitié-Salpêtrière] (DMIIC), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Centre de Recherche en Myologie, Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), Université de Tours-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier de la Côte Basque (CHCB)
المصدر:	PLoS ONE PLoS ONE, Public Library of Science, 2020, 15 (5), pp.e0233460. ⟨10.1371/journal.pone.0233460⟩ PLoS ONE, Vol 15, Iss 5, p e0233460 (2020) PLoS ONE, 2020, 15 (5), pp.e0233460. ⟨10.1371/journal.pone.0233460⟩
بيانات النشر:	HAL CCSD, 2020.
سنة النشر:	2020
مصطلحات موضوعية:	Hydrolases, 030232 urology & nephrology, Otology, 030204 cardiovascular system & hematology, Deafness, Pathology and Laboratory Medicine, Vascular Medicine, Biochemistry, Cornea, Cohort Studies, 0302 clinical medicine, Lysosomal storage disease, Medicine and Health Sciences, Renal Transplantation, Cornea verticillata, Prospective Studies, Registries, Hearing Disorders, Multidisciplinary, Proteinuria, Hypertrophic cardiomyopathy, Middle Aged, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, Phenotype, 3. Good health, Enzymes, Stroke, Neurology, Medicine, Female, France, medicine.symptom, Anatomy, Cardiomyopathies, Research Article, Adult, medicine.medical_specialty, Glycoside Hydrolases, Science, Ocular Anatomy, Cerebrovascular Diseases, Cardiology, Surgical and Invasive Medical Procedures, Urinary System Procedures, 03 medical and health sciences, Young Adult, Signs and Symptoms, Ocular System, Diagnostic Medicine, Internal medicine, medicine, Genetics, Humans, Paresthesia, Acroparesthesia, Transplantation, business.industry, Biology and Life Sciences, Proteins, Human Genetics, Organ Transplantation, medicine.disease, Fabry disease, Human genetics, Otorhinolaryngology, Enzymology, Fabry Disease, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, business
الوصف:	International audience; Backgroud: Fabry disease (OMIM #301 500), the most prevalent lysosomal storage disease, is caused by enzymatic defects in alpha-galactosidase A (GLA gene; Xq22.1). Fabry disease has historically been characterized by progressive renal failure, early stroke and hypertrophic cardiomyopathy, with a diminished life expectancy. A nonclassical phenotype has been described with an almost exclusive cardiac involvement. Specific therapies with enzyme substitution or chaperone molecules are now available depending on the mutation carried. Numerous clinical and fundamental studies have been conducted without stratifying patients by phenotype or severity, despite different prognoses and possible different pathophysiologies. We aimed to identify a simple and clinically relevant way to classify and stratify patients according to their disease severity.Methods: Based on data from the French Fabry Biobank and Registry (FFABRY; n = 104; 54 males), we applied unsupervised multivariate statistics to determine clusters of patients and identify clinical criteria that would allow an effective classification of adult patients. Thanks to these criteria and empirical clinical considerations we secondly elaborate a new score that allow the severity stratification of patients.Results: We observed that the absence of acroparesthesia or cornea verticillata is sufficient to classify males as having the nonclassical phenotype. We did not identify criteria that significantly cluster female patients. The classical phenotype was associated with a higher risk of severe renal (HR = 35.1; p
اللغة:	English
تدمد:	1932-6203
الوصول الحر:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6548e833adef8aed2cbae0f87965da0Test https://hal.sorbonne-universite.fr/hal-02871577/documentTest
حقوق:	OPEN
رقم الانضمام:	edsair.doi.dedup.....e6548e833adef8aed2cbae0f87965da0
قاعدة البيانات:	OpenAIRE

الوصف
تدمد:	19326203