Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease
Por:
Andrade-Campos M, Alfonso P, Irun P, Armstrong J, Calvo C, Dalmau J, Domingo MR, Barbera JL, Cano H, Fernandez-Galán MA, Franco R, Gracia I, Gracia-Antequera M, Ibañez A, Lendinez F, Madruga M, Martin-Hernández E, O'Callaghan MDM, Del Soto AP, Del Prado YR, Sancho-Val I, Sanjurjo P, Pocovi M and Giraldo P
Publicada:
3 may 2017
Resumen:
Background: 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.
Filiaciones:
Andrade-Campos M:
Haematology Department, Miguel Servet University Hospital, Zaragoza, Spain
CIBER de Enfermedades Raras (CIBERER), Instituto Salud Carlos III, Zaragoza, Spain
Traslational Research Unit, Aragon Institute of Health Research (IISAragon), Zaragoza, Spain
Alfonso P:
CIBER de Enfermedades Raras (CIBERER), Instituto Salud Carlos III, Zaragoza, Spain
Traslational Research Unit, Aragon Institute of Health Research (IISAragon), Zaragoza, Spain
Irun P:
CIBER de Enfermedades Raras (CIBERER), Instituto Salud Carlos III, Zaragoza, Spain
Traslational Research Unit, Aragon Institute of Health Research (IISAragon), Zaragoza, Spain
Armstrong J:
Hospital Sant Joan de Déu, Barcelona, Spain
Calvo C:
Pediatric Department, San Jorge Hospital, Huesca, Spain
Dalmau J:
Pediatric Department, La Fe University Hospital, Valencia, Spain
Domingo MR:
Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, Spain
Barbera JL:
Pediatric Department, Manises Hospital, Valencia, Spain
Cano H:
Haematology Department, Los Arcos del Mar Menor University Hospital, Murcia, Spain
Fernandez-Galán MA:
Haematology Department, Virgen del Puerto Plasencia, Plasencia, Spain
Franco R:
Haematology Department, Punta Europa Hospital, Cádiz, Spain
Gracia I:
Pediatric Department, Miguel Servet University Hospital, Zaragoza, Spain
:
Hospital Universitario Doctor Peset, Valencia, Spain
Ibañez A:
Haematology Department, Complejo Hospitalario Albacete, Albacete, Spain
Lendinez F:
Pediatric Department, Torrecárdenas Hospital, Almeria, Spain
Madruga M:
Neurology Department, Hospital Universitario Virgen del Rocio, Sevilla, Spain
Martin-Hernández E:
Pediatric Department, !2 Octubre University Hospital, Madrid, Spain
O'Callaghan MDM:
Institut de Recerca Pediàtrica-Hospital Sant Joan de Déu (IRP-HSJD), CIBERER, Barcelona, Spain
Del Soto AP:
Haematology Department, Virgen del Rocío University Hospital, Sevilla, Spain
Del Prado YR:
Pediatric Department, Hospital San Millan y San Pedro, La Rioja, Spain
Sancho-Val I:
Haematology Department, Alcañiz Hospital, Teruel, Spain
Sanjurjo P:
Pediatric Department, Cruces University Hospital, Bilbao, Spain
Pocovi M:
Biochemistry and Molecular and Cellular Biology Department, Zaragoza University, Zaragoza, Spain
Giraldo P:
Haematology Department, Miguel Servet University Hospital, Zaragoza, Spain.
CIBER de Enfermedades Raras (CIBERER), Instituto Salud Carlos III, Zaragoza, Spain.
Traslational Research Unit, Aragon Institute of Health Research (IISAragon), Zaragoza, Spain.
Spanish Foundation for the Study and Therapy of Gaucher Disease (FEETEG), Zaragoza, Spain.
Unidad de Investigacion Traslacional, Pta Baja, Hospital Universitario Miguel Servet, Paseo Isabel La Catolica 1-3, Zaragoza, 50009, Spain.
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