Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease
Abstract 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 ha...
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| Format: | Article |
| Language: | English |
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BMC
2017-05-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s13023-017-0627-z |
| _version_ | 1828759703528669184 |
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| author | Marcio Andrade-Campos Pilar Alfonso Pilar Irun Judith Armstrong Carmen Calvo Jaime Dalmau Maria-Rosario Domingo Jose-Luis Barbera Horacio Cano Maria-Angeles Fernandez-Galán Rafael Franco Inmaculada Gracia Miguel Gracia-Antequera Angela Ibañez Francisco Lendinez Marcos Madruga Elena Martin-Hernández Maria del Mar O’Callaghan Alberto Pérez del Soto Yolanda Ruiz del Prado Ignacio Sancho-Val Pablo Sanjurjo Miguel Pocovi Pilar Giraldo |
| author_facet | Marcio Andrade-Campos Pilar Alfonso Pilar Irun Judith Armstrong Carmen Calvo Jaime Dalmau Maria-Rosario Domingo Jose-Luis Barbera Horacio Cano Maria-Angeles Fernandez-Galán Rafael Franco Inmaculada Gracia Miguel Gracia-Antequera Angela Ibañez Francisco Lendinez Marcos Madruga Elena Martin-Hernández Maria del Mar O’Callaghan Alberto Pérez del Soto Yolanda Ruiz del Prado Ignacio Sancho-Val Pablo Sanjurjo Miguel Pocovi Pilar Giraldo |
| author_sort | Marcio Andrade-Campos |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-12-11T01:02:15Z |
| format | Article |
| id | doaj.art-1a7e6eaf92fa43ff82a354ce89bf3c57 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-12-11T01:02:15Z |
| publishDate | 2017-05-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-1a7e6eaf92fa43ff82a354ce89bf3c572022-12-22T01:26:17ZengBMCOrphanet Journal of Rare Diseases1750-11722017-05-011211910.1186/s13023-017-0627-zDiagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher DiseaseMarcio Andrade-Campos0Pilar Alfonso1Pilar Irun2Judith Armstrong3Carmen Calvo4Jaime Dalmau5Maria-Rosario Domingo6Jose-Luis Barbera7Horacio Cano8Maria-Angeles Fernandez-Galán9Rafael Franco10Inmaculada Gracia11Miguel Gracia-Antequera12Angela Ibañez13Francisco Lendinez14Marcos Madruga15Elena Martin-Hernández16Maria del Mar O’Callaghan17Alberto Pérez del Soto18Yolanda Ruiz del Prado19Ignacio Sancho-Val20Pablo Sanjurjo21Miguel Pocovi22Pilar Giraldo23Haematology Department, Miguel Servet University HospitalCIBER de Enfermedades Raras (CIBERER), Instituto Salud Carlos IIICIBER de Enfermedades Raras (CIBERER), Instituto Salud Carlos IIIHospital Sant Joan de DeuPediatric Department, San Jorge HospitalPediatric Department, La Fe University HospitalHospital Clinico Universitario Virgen de la ArrixacaPediatric Department, Manises HospitalHaematology Department, Los Arcos del Mar Menor University HospitalHaematology Department, Virgen del Puerto PlasenciaHaematology Department, Punta Europa HospitalPediatric Department, Miguel Servet University HospitalHospital Universitario Doctor PesetHaematology Department, Complejo Hospitalario AlbacetePediatric Department, Torrecárdenas HospitalNeurology Department, Hospital Universitario Virgen del RocioPediatric Department, !2 Octubre University HospitalInstitut de Recerca Pediàtrica-Hospital Sant Joan de Déu (IRP-HSJD), CIBERERHaematology Department, Virgen del Rocío University HospitalPediatric Department, Hospital San Millan y San PedroHaematology Department, Alcañiz HospitalPediatric Department, Cruces University HospitalBiochemistry and Molecular and Cellular Biology Department, Zaragoza UniversityHaematology Department, Miguel Servet University HospitalAbstract 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.http://link.springer.com/article/10.1186/s13023-017-0627-zChildrenGaucher DiseaseEnzymatic replacement therapy |
| spellingShingle | Marcio Andrade-Campos Pilar Alfonso Pilar Irun Judith Armstrong Carmen Calvo Jaime Dalmau Maria-Rosario Domingo Jose-Luis Barbera Horacio Cano Maria-Angeles Fernandez-Galán Rafael Franco Inmaculada Gracia Miguel Gracia-Antequera Angela Ibañez Francisco Lendinez Marcos Madruga Elena Martin-Hernández Maria del Mar O’Callaghan Alberto Pérez del Soto Yolanda Ruiz del Prado Ignacio Sancho-Val Pablo Sanjurjo Miguel Pocovi Pilar Giraldo Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease Orphanet Journal of Rare Diseases Children Gaucher Disease Enzymatic replacement therapy |
| title | Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease |
| title_full | Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease |
| title_fullStr | Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease |
| title_full_unstemmed | Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease |
| title_short | Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease |
| title_sort | diagnosis features of pediatric gaucher disease patients in the era of enzymatic therapy a national base study from the spanish registry of gaucher disease |
| topic | Children Gaucher Disease Enzymatic replacement therapy |
| url | http://link.springer.com/article/10.1186/s13023-017-0627-z |
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