RT Journal Article
T1 Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease.
A1 Andrade-Campos, Marcio
A1 Alfonso, Pilar
A1 Irun, Pilar
A1 Armstrong, Judith
A1 Calvo, Carmen
A1 Dalmau, Jaime
A1 Domingo, Maria-Rosario
A1 Barbera, Jose-Luis
A1 Cano, Horacio
A1 Fernandez-Galán, Maria-Angeles
A1 Franco, Rafael
A1 Gracia, Inmaculada
A1 Gracia-Antequera, Miguel
A1 Ibañez, Angela
A1 Lendinez, Francisco
A1 Madruga, Marcos
A1 Martin-Hernández, Elena
A1 O'Callaghan, Maria Del Mar
A1 Del Soto, Alberto Pérez
A1 Del Prado, Yolanda Ruiz
A1 Sancho-Val, Ignacio
A1 Sanjurjo, Pablo
A1 Pocovi, Miguel
A1 Giraldo, Pilar
K1 Children
K1 Enzymatic replacement therapy
K1 Gaucher Disease
AB 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. To analyze the impact of ERT on the characteristics at time of diagnosis and initial complications in pediatric Gaucher disease patients. 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). 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  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.
YR 2017
FD 2017-05-03
LK http://hdl.handle.net/10668/11164
UL http://hdl.handle.net/10668/11164
LA en
DS RISalud
RD Apr 8, 2025