000096160 001__ 96160
000096160 005__ 20210902121852.0
000096160 0247_ $$2doi$$a10.1186/s13023-020-01520-7
000096160 0248_ $$2sideral$$a120723
000096160 037__ $$aART-2020-120723
000096160 041__ $$aeng
000096160 100__ $$aAndrade-Campos, M.M.
000096160 245__ $$aIdentification of risk features for complication in Gaucher''s disease patients: A machine learning analysis of the Spanish registry of Gaucher disease
000096160 260__ $$c2020
000096160 5060_ $$aAccess copy available to the general public$$fUnrestricted
000096160 5203_ $$aBackground: Since enzyme replacement therapy for Gaucher disease (MIM#230800) has become available, both awareness of and the natural history of the disease have changed. However, there remain unmet needs such as the identification of patients at risk of developing bone crisis during therapy and late complications such as cancer or parkinsonism. The Spanish Gaucher Disease Registry has worked since 1993 to compile demographic, clinical, genetic, analytical, imaging and follow-up data from more than 400 patients. The aims of this study were to discover correlations between patients' characteristics at diagnosis and to identify risk features for the development of late complications; for this a machine learning approach involving correlation networks and decision trees analyses was applied.
Results: A total of 358 patients, 340 type 1 Gaucher disease and 18 type 3 cases were selected. 18% were splenectomyzed and 39% had advanced bone disease. 81% of cases carried heterozygous genotype. 47% of them were diagnosed before the year 2000. Mean age at diagnosis and therapy were 28 and 31.5 years old (y.o.) respectively. 4% developed monoclonal gammopathy undetermined significance or Parkinson Disease, 6% cancer, and 10% died before this study. Previous splenectomy correlates with the development of skeletal complications and severe bone disease (p = 0.005); serum levels of IgA, delayed age at start therapy (> 9.5 y.o. since diagnosis) also correlates with severe bone disease at diagnosis and with the incidence of bone crisis during therapy. High IgG (> 1750 mg/dL) levels and age over 60 y.o. at diagnosis were found to be related with the development of cancer. When modelling the decision tree, patients with a delayed diagnosis and therapy were the most severe and with higher risk of complications.
Conclusions: Our work confirms previous observations, highlights the importance of early diagnosis and therapy and identifies new risk features such as high IgA and IgG levels for long-term complications.
000096160 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttp://creativecommons.org/licenses/by/3.0/es/
000096160 590__ $$a4.123$$b2020
000096160 591__ $$aMEDICINE, RESEARCH & EXPERIMENTAL$$b67 / 140 = 0.479$$c2020$$dQ2$$eT2
000096160 591__ $$aGENETICS & HEREDITY$$b64 / 175 = 0.366$$c2020$$dQ2$$eT2
000096160 592__ $$a1.274$$b2020
000096160 593__ $$aGenetics (clinical)$$c2020$$dQ1
000096160 593__ $$aPharmacology (medical)$$c2020$$dQ1
000096160 593__ $$aMedicine (miscellaneous)$$c2020$$dQ1
000096160 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000096160 700__ $$aDe Frutos, L.L.
000096160 700__ $$0(orcid)0000-0001-8727-9179$$aCebolla, J.J.$$uUniversidad de Zaragoza
000096160 700__ $$aSerrano-Gonzalo, I.
000096160 700__ $$aMedrano-Engay, B.
000096160 700__ $$aRoca-Espiau, M.
000096160 700__ $$aGomez-Barrera, B.
000096160 700__ $$0(orcid)0000-0003-4688-182X$$aPérez-Heredia, J.
000096160 700__ $$0(orcid)0000-0003-2916-5493$$aIñiguez, D.$$uUniversidad de Zaragoza
000096160 700__ $$aGiraldo, P.
000096160 7102_ $$12004$$2405$$aUniversidad de Zaragoza$$bDpto. Física Teórica$$cÁrea Física Teórica
000096160 7102_ $$11002$$2060$$aUniversidad de Zaragoza$$bDpto. Bioq.Biolog.Mol. Celular$$cÁrea Bioquímica y Biolog.Mole.
000096160 773__ $$g15, 1 (2020), 256 [11 pp]$$pOrphanet Journal of Rare Diseases$$tOrphanet Journal of Rare Diseases$$x1750-1172
000096160 8564_ $$s1778561$$uhttps://zaguan.unizar.es/record/96160/files/texto_completo.pdf$$yVersión publicada
000096160 8564_ $$s49326$$uhttps://zaguan.unizar.es/record/96160/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000096160 909CO $$ooai:zaguan.unizar.es:96160$$particulos$$pdriver
000096160 951__ $$a2021-09-02-10:30:25
000096160 980__ $$aARTICLE