AustralieFrV1, PascalFrancis, Corpus, bibRecord, 003B70

Fabry disease : Baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry : Science Oriented Congress and Patnership

Identifieur interne : 003B70 ( PascalFrancis/Corpus ); précédent : 003B69; suivant : 003B71

Fabry disease : Baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry : Science Oriented Congress and Patnership

Auteurs : C. M. Eng ; J. Fletcher ; W. R. Wilcox ; S. Waldek ; C. R. Scott ; D. O. Sillence ; F. Breunig ; J. Charrow ; D. P. Germain ; K. Nicholls ; M. Banikazemi

Source :

Journal of inherited metabolic disease [ 0141-8955 ] ; 2007.

RBID : Pascal:07-0300896

Descripteurs français

Pascal (Inist)
- Sphingolipidose héréditaire Fabry, Médecine, Caractéristiques, Caractéristique, Etude cohorte, Santé publique, Mâle, Femelle, Registre, Génétique, Métabolisme pathologie, Nutrition, Maladie héréditaire, Lipide.

English descriptors

KwdEn :
- Characteristic, Characteristics, Cohort study, Fabry disease, Female, Genetic disease, Genetics, Lipids, Male, Medicine, Metabolic diseases, Nutrition, Public health, Register.

Abstract

The Fabry Registry is a global observational research platform established to define outcome data on the natural and treated course of this rare disorder. Participating physicians submit structured longitudinal data to a centralized, confidential database. This report describes the baseline demographic and clinical characteristics of the first 1765 patients (54% males (16% aged <20 years) and 46% females (13% <20 years)) enrolled in the Fabry Registry. The median ages at symptom onset and diagnosis were 9 and 23 years (males) and 13 and 32 years (females), respectively, indicating diagnostic delays in both sexes. Frequent presenting symptoms in males included neurological pain (62%), skin signs (31%), gastroenterological symptoms (19%), renal signs (unspecified) (17%), and ophthalmological signs (11%). First symptoms in females included neurological pain (41%), gastroenterological symptoms (13%), ophthalmological (12%), and skin signs (12%). For those patients reporting renal progression, the median age at occurrence was 38 years for both sexes, but onset of cerebrovascular and cardiovascular events was later in females (median 43 and 47 years, respectively) than in males (38 and 41 years, respectively). This paper demonstrates that in spite of the considerable burden of disease in both sexes that begins to manifest in childhood or adolescence, the recognition of the underlying diagnosis is delayed by 14 years in males and 19 years in females. The Fabry Registry provides data that can increase awareness of common symptoms in all age groups, as well as insight into treated and untreated disease course, leading to improved recognition and earlier treatment, and possibly to improved outcomes for affected individuals.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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Format Inist (serveur)

NO :	PASCAL 07-0300896 INIST
ET :	Fabry disease : Baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry : Science Oriented Congress and Patnership
AU :	ENG (C. M.); FLETCHER (J.); WILCOX (W. R.); WALDEK (S.); SCOTT (C. R.); SILLENCE (D. O.); BREUNIG (F.); CHARROW (J.); GERMAIN (D. P.); NICHOLLS (K.); BANIKAZEMI (M.)
AF :	Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015/Houston, TX 77030/Etats-Unis (1 aut.); Women's & Children's Hospital/Adelaide, South Australia/Australie (2 aut.); Cedars Sinai Medical Center/Los Angeles, California/Etats-Unis (3 aut.); Hope Hospital/Salford, Manchester/Royaume-Uni (4 aut.); University of Washington School of Medicine/Seattle, Washington/Etats-Unis (5 aut.); Department of Genetic Medicine, Westmead Hospital/Westmead, New South Wales/Australie (6 aut.); University Hospital/Würzburg/Allemagne (7 aut.); Children's Memorial Hospital, Feinberg School of Medicine, Northwestern University/Chicago, Illinois/Etats-Unis (8 aut.); Centre de reference de la maladie de Fabry et des maladies hereditaires du tissu conjonctif, Assistance Publique -Hopitaux de Paris/Paris/France (9 aut.); Department of Nephrology, The Royal Melbourne Hospital/Parkville/Australie (10 aut.); New York University School of Medicine/New York, NY/Etats-Unis (11 aut.)
DT :	Publication en série; Congrès; Niveau analytique
SO :	Journal of inherited metabolic disease; ISSN 0141-8955; Coden JIMDDP; Pays-Bas; Da. 2007; Vol. 30; No. 2; Pp. 184-192; Bibl. 3/4 p.
LA :	Anglais
EA :	The Fabry Registry is a global observational research platform established to define outcome data on the natural and treated course of this rare disorder. Participating physicians submit structured longitudinal data to a centralized, confidential database. This report describes the baseline demographic and clinical characteristics of the first 1765 patients (54% males (16% aged <20 years) and 46% females (13% <20 years)) enrolled in the Fabry Registry. The median ages at symptom onset and diagnosis were 9 and 23 years (males) and 13 and 32 years (females), respectively, indicating diagnostic delays in both sexes. Frequent presenting symptoms in males included neurological pain (62%), skin signs (31%), gastroenterological symptoms (19%), renal signs (unspecified) (17%), and ophthalmological signs (11%). First symptoms in females included neurological pain (41%), gastroenterological symptoms (13%), ophthalmological (12%), and skin signs (12%). For those patients reporting renal progression, the median age at occurrence was 38 years for both sexes, but onset of cerebrovascular and cardiovascular events was later in females (median 43 and 47 years, respectively) than in males (38 and 41 years, respectively). This paper demonstrates that in spite of the considerable burden of disease in both sexes that begins to manifest in childhood or adolescence, the recognition of the underlying diagnosis is delayed by 14 years in males and 19 years in females. The Fabry Registry provides data that can increase awareness of common symptoms in all age groups, as well as insight into treated and untreated disease course, leading to improved recognition and earlier treatment, and possibly to improved outcomes for affected individuals.
CC :	002B22D02; 002B23; 002B30A11
FD :	Sphingolipidose héréditaire Fabry; Médecine; Caractéristiques; Caractéristique; Etude cohorte; Santé publique; Mâle; Femelle; Registre; Génétique; Métabolisme pathologie; Nutrition; Maladie héréditaire; Lipide
FG :	Appareil circulatoire pathologie; Enzymopathie; Lipoïdose; Système nerveux pathologie; Vaisseau sanguin pathologie
ED :	Fabry disease; Medicine; Characteristics; Characteristic; Cohort study; Public health; Male; Female; Register; Genetics; Metabolic diseases; Nutrition; Genetic disease; Lipids
EG :	Cardiovascular disease; Enzymopathy; Lipoidosis; Nervous system diseases; Vascular disease
SD :	Esfingolipidosis hereditaria Fabry; Medicina; Características; Característica; Estudio cohorte; Salud pública; Macho; Hembra; Registro; Genética; Metabolismo patología; Nutrición; Enfermedad hereditaria; Lípido
LO :	INIST-18251.354000149915910090
ID :	07-0300896

Links to Exploration step

Pascal:07-0300896

Le document en format XML

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<series><title level="j" type="main">Journal of inherited metabolic disease</title>
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<term>Genetic disease</term>
<term>Genetics</term>
<term>Lipids</term>
<term>Male</term>
<term>Medicine</term>
<term>Metabolic diseases</term>
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<front><div type="abstract" xml:lang="en">The Fabry Registry is a global observational research platform established to define outcome data on the natural and treated course of this rare disorder. Participating physicians submit structured longitudinal data to a centralized, confidential database. This report describes the baseline demographic and clinical characteristics of the first 1765 patients (54% males (16% aged <20 years) and 46% females (13% <20 years)) enrolled in the Fabry Registry. The median ages at symptom onset and diagnosis were 9 and 23 years (males) and 13 and 32 years (females), respectively, indicating diagnostic delays in both sexes. Frequent presenting symptoms in males included neurological pain (62%), skin signs (31%), gastroenterological symptoms (19%), renal signs (unspecified) (17%), and ophthalmological signs (11%). First symptoms in females included neurological pain (41%), gastroenterological symptoms (13%), ophthalmological (12%), and skin signs (12%). For those patients reporting renal progression, the median age at occurrence was 38 years for both sexes, but onset of cerebrovascular and  cardiovascular events was later in females (median 43 and 47 years, respectively) than in males (38 and 41 years, respectively). This paper demonstrates that in spite of the considerable burden of disease in both sexes that begins to manifest in childhood or adolescence, the recognition of the underlying diagnosis is delayed by 14 years in males and 19 years in females. The Fabry Registry provides data that can increase awareness of common symptoms in all age groups, as well as insight into treated and untreated disease course, leading to improved recognition and earlier treatment, and possibly to improved outcomes for affected individuals.</div>
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<ET>Fabry disease : Baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry : Science Oriented Congress and Patnership</ET>
<AU>ENG (C. M.); FLETCHER (J.); WILCOX (W. R.); WALDEK (S.); SCOTT (C. R.); SILLENCE (D. O.); BREUNIG (F.); CHARROW (J.); GERMAIN (D. P.); NICHOLLS (K.); BANIKAZEMI (M.)</AU>
<AF>Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015/Houston, TX 77030/Etats-Unis (1 aut.); Women's & Children's Hospital/Adelaide, South Australia/Australie (2 aut.); Cedars Sinai Medical Center/Los Angeles, California/Etats-Unis (3 aut.); Hope Hospital/Salford, Manchester/Royaume-Uni (4 aut.); University of Washington School of Medicine/Seattle, Washington/Etats-Unis (5 aut.); Department of Genetic Medicine, Westmead Hospital/Westmead, New South Wales/Australie (6 aut.); University Hospital/Würzburg/Allemagne (7 aut.); Children's Memorial Hospital, Feinberg School of Medicine, Northwestern University/Chicago, Illinois/Etats-Unis (8 aut.); Centre de reference de la maladie de Fabry et des maladies hereditaires du tissu conjonctif, Assistance Publique -Hopitaux de Paris/Paris/France (9 aut.); Department of Nephrology, The Royal Melbourne Hospital/Parkville/Australie (10 aut.); New York University School of Medicine/New York, NY/Etats-Unis (11 aut.)</AF>
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<EA>The Fabry Registry is a global observational research platform established to define outcome data on the natural and treated course of this rare disorder. Participating physicians submit structured longitudinal data to a centralized, confidential database. This report describes the baseline demographic and clinical characteristics of the first 1765 patients (54% males (16% aged <20 years) and 46% females (13% <20 years)) enrolled in the Fabry Registry. The median ages at symptom onset and diagnosis were 9 and 23 years (males) and 13 and 32 years (females), respectively, indicating diagnostic delays in both sexes. Frequent presenting symptoms in males included neurological pain (62%), skin signs (31%), gastroenterological symptoms (19%), renal signs (unspecified) (17%), and ophthalmological signs (11%). First symptoms in females included neurological pain (41%), gastroenterological symptoms (13%), ophthalmological (12%), and skin signs (12%). For those patients reporting renal progression, the median age at occurrence was 38 years for both sexes, but onset of cerebrovascular and  cardiovascular events was later in females (median 43 and 47 years, respectively) than in males (38 and 41 years, respectively). This paper demonstrates that in spite of the considerable burden of disease in both sexes that begins to manifest in childhood or adolescence, the recognition of the underlying diagnosis is delayed by 14 years in males and 19 years in females. The Fabry Registry provides data that can increase awareness of common symptoms in all age groups, as well as insight into treated and untreated disease course, leading to improved recognition and earlier treatment, and possibly to improved outcomes for affected individuals.</EA>
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<ED>Fabry disease; Medicine; Characteristics; Characteristic; Cohort study; Public health; Male; Female; Register; Genetics; Metabolic diseases; Nutrition; Genetic disease; Lipids</ED>
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	Serveur d'exploration sur les relations entre la France et l'Australie
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Serveur d'exploration sur les relations entre la France et l'Australie

Fabry disease : Baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry : Science Oriented Congress and Patnership

Fabry disease : Baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry : Science Oriented Congress and Patnership

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