000061614 001__ 61614
000061614 005__ 20190709135427.0
000061614 0247_ $$2doi$$a10.1186/s13023-017-0627-z
000061614 0248_ $$2sideral$$a99018
000061614 037__ $$aART-2017-99018
000061614 041__ $$aeng
000061614 100__ $$aAndrade-Campos, M.
000061614 245__ $$aDiagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease
000061614 260__ $$c2017
000061614 5060_ $$aAccess copy available to the general public$$fUnrestricted
000061614 5203_ $$aBackground: The enzymatic replacement therapy (ERT) availability for Gaucher disease (GD) has changed the landscape of the disease, several countries have screening programs. These actions have promoted the early diagnosis and avoided many complications in pediatric patients. In Spain ERT has been available since 1993 and 386 patients have been included in the Spanish Registry of Gaucher Disease (SpRGD). The aim of this study is to analyze the impact of ERT on the characteristics at time of diagnosis and initial complications in pediatric Gaucher disease patients. Aim: To analyze the impact of ERT on the characteristics at time of diagnosis and initial complications in pediatric Gaucher disease patients. Methods: A review of data in SpRGD from patients'' diagnosed before 18 years old was performed. The cohort was split according the year of diagnosis (=1994, cohort A; =1995, cohort B). Results: A total of 98 pediatric patients were included, GD1: 80, GD3: 18; mean age: 7.2 (0.17-16.5) years, 58 (59.2%) males and 40 (40.8%) females. Forty-five were diagnosed = 1994 and 53 = 1995. Genotype: N370S/N370S: 2 (2.0%), N370S/L444P: 27 (27.5%), N370S/other: 47 (48%), L444P/L444P: 7 (7.1%), L444P/D409H: 2 (2.0%), L444P/other: 3 (6.2%), other/other: 10 (10.2%). The mean age at diagnosis was earlier in patients diagnosed after 1995 (p < 0.001) and different between the subtypes, GD1: 8.2 (0.2-16.5) years and GD3: 2.8 (0.17-10.2) years (p < 0.001). There were more severe patients in the group diagnosed before 1994 (p = 0.045) carrying L444P (2), D409H (2), G377S (1), G195W (1) or the recombinant mutation. The patients'' diagnosed =1994 showed worse cytopenias, higher chance of bone vascular complications at diagnosis and previous spleen removal. The patients started ERT at a median time after diagnosis of 5.2 years [cohort A] and 1.6 years [cohort B] (p < 0.001). Conclusions: The early diagnosis of Gaucher disease in the era of ERT availability has permitted to reduce the incidence of severe and irreversible initial complication in pediatric patients, and this has permitted better development of these patients. This is the largest pediatric cohort from a national registry.
000061614 536__ $$9info:eu-repo/grantAgreement/ES/FIS/PI12-01219$$9info:eu-repo/grantAgreement/ES/FIS/PS15-0616
000061614 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttp://creativecommons.org/licenses/by/3.0/es/
000061614 590__ $$a3.607$$b2017
000061614 591__ $$aMEDICINE, RESEARCH & EXPERIMENTAL$$b45 / 133 = 0.338$$c2017$$dQ2$$eT2
000061614 591__ $$aGENETICS & HEREDITY$$b55 / 171 = 0.322$$c2017$$dQ2$$eT1
000061614 592__ $$a1.413$$b2017
000061614 593__ $$aMedicine (miscellaneous)$$c2017$$dQ1
000061614 593__ $$aPharmacology (medical)$$c2017$$dQ1
000061614 593__ $$aGenetics (clinical)$$c2017$$dQ2
000061614 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000061614 700__ $$aAlfonso, P.
000061614 700__ $$0(orcid)0000-0003-3392-7200$$aIrun, P.
000061614 700__ $$aArmstrong, J.
000061614 700__ $$aCalvo, C.
000061614 700__ $$aDalmau, J.
000061614 700__ $$aDomingo, M.R.
000061614 700__ $$aBarbera, J.L.
000061614 700__ $$aCano, H.
000061614 700__ $$aFernandez-Galán, M.A.
000061614 700__ $$aFranco, R.
000061614 700__ $$aGracia, I.
000061614 700__ $$aGracia-Antequera, M.
000061614 700__ $$aIbañez, A.
000061614 700__ $$aLendinez, F.
000061614 700__ $$aMadruga, M.
000061614 700__ $$aMartin-Hernández, E.
000061614 700__ $$aO''Callaghan, M.D.M.
000061614 700__ $$aDel Soto, A.P.
000061614 700__ $$aDel Prado, Y.R.
000061614 700__ $$aSancho-Val, I.
000061614 700__ $$aSanjurjo, P.
000061614 700__ $$0(orcid)0000-0001-8807-9187$$aPocovi, M.$$uUniversidad de Zaragoza
000061614 700__ $$aGiraldo, P.
000061614 7102_ $$11002$$2060$$aUniversidad de Zaragoza$$bDpto. Bioq.Biolog.Mol. Celular$$cÁrea Bioquímica y Biolog.Mole.
000061614 773__ $$g12, 1 (2017), 84 [9 pp]$$pOrphanet Journal of Rare Diseases$$tOrphanet Journal of Rare Diseases$$x1750-1172
000061614 8564_ $$s601269$$uhttps://zaguan.unizar.es/record/61614/files/texto_completo.pdf$$yVersión publicada
000061614 8564_ $$s94016$$uhttps://zaguan.unizar.es/record/61614/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
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000061614 951__ $$a2019-07-09-11:30:24
000061614 980__ $$aARTICLE