000061472 001__ 61472
000061472 005__ 20200221144347.0
000061472 0247_ $$2doi$$a10.1093/qjmed/hcw002
000061472 0248_ $$2sideral$$a96127
000061472 037__ $$aART-2016-96127
000061472 041__ $$aeng
000061472 100__ $$0(orcid)0000-0001-9760-1248$$aTorralba, M. A.$$uUniversidad de Zaragoza
000061472 245__ $$aResidual enzymatic activity as a prognostic factor in patients with Gaucher disease type 1: Correlation with Zimran and GAUSS-I index and the severity of bone disease
000061472 260__ $$c2016
000061472 5060_ $$aAccess copy available to the general public$$fUnrestricted
000061472 5203_ $$aBackground: Gaucher disease (GD) is an autosomal recessive disorder produced by mutations in the glucocerebrosidase gene (GBA), causing storage of glucosylceramide in reticuloendothelial cells in multiple organs. Traditionally, the prediction of the phenotype based on the genotype has been reported to be limited.Subjects and Methods: We investigated the correlation between the enzymatic residual activity (ERA) and the phenotype at diagnosis of the disease in 45 GD Spanish patients (44 with type I and 1 with type III GD). The genotype involved two of the following previously expressed proteins: c.517A¿>¿C (T134P), 1%; c.721G¿>¿A (G202R), 17%; c.1090G¿>¿T (G325W), 13.9%; c.1208G¿>¿A (S364N), 4.1%; c.1226A¿>¿G (N370S), 17.8%; c.1246G¿>¿A (G377S), 17.6%; c.1289C¿>¿T (P391L), 8.5%; c.1448T¿>¿C (L444P), 3%; and c.1504C¿>¿T (R463C), 24.5%. Recombinant alleles, deletion of 55¿bp in exon 9 and 84GG mutation were considered as mutations with no residual enzymatic activity.Results: The ERA showed a statistically significant correlation with chitotriosidase (P¿<¿0.001), age (P¿<¿0.001), spleen size (P¿<¿0.001), ‘Zimran’s Severity Score Index’ (P¿<¿0.01) and the ‘Gaucher Disease Severity Score Index—Type I’ (P¿<¿ 0.0001) at diagnosis of the disorder. Previous to any medical intervention, a comparison between the ERA and bone involvement, demonstrated a statistically significant relationship (P¿<¿0.01) between the two variables.Conclusions: This study data allowed us to define a new criterion for prognostic assessment of the disease at diagnosis, called Protein Severity Index, which expresses the theoretical severity of the genotype presented by patients, according to the corresponding ERA.
000061472 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttp://creativecommons.org/licenses/by/3.0/es/
000061472 590__ $$a3.131$$b2016
000061472 591__ $$aMEDICINE, GENERAL & INTERNAL$$b26 / 154 = 0.169$$c2016$$dQ1$$eT1
000061472 592__ $$a0.559$$b2016
000061472 593__ $$aMedicine (miscellaneous)$$c2016$$dQ2
000061472 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000061472 700__ $$0(orcid)0000-0002-4034-1710$$aOlivera, S.$$uUniversidad de Zaragoza
000061472 700__ $$aBureo, J. C.
000061472 700__ $$aDalmau, J.
000061472 700__ $$aNuñez, R.
000061472 700__ $$aLeón, P.
000061472 700__ $$aVillarrubia, J.
000061472 7102_ $$11007$$2610$$aUniversidad de Zaragoza$$bDpto. Medicina, Psiqu. y Derm.$$cArea Medicina
000061472 773__ $$g109, 7 (2016), 449-452$$pQJM$$tQJM: An International Journal of Medicine$$x1460-2725
000061472 8564_ $$s177476$$uhttp://zaguan.unizar.es/record/61472/files/texto_completo.pdf$$yVersión publicada
000061472 8564_ $$s88639$$uhttp://zaguan.unizar.es/record/61472/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000061472 909CO $$ooai:zaguan.unizar.es:61472$$particulos$$pdriver
000061472 951__ $$a2020-02-21-13:53:15
000061472 980__ $$aARTICLE