ArticleOrphanet journal of rare diseases2017
Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease.
Article in Orphanet journal of rare diseases, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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15 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative.Internal medicine journal · 2019Guideline
- Exploring delayed diagnosis in Gaucher disease: insights from a community survey and potential solutions.Orphanet journal of rare diseases · 2026Article
- Real life data: follow-up assessment on Spanish Gaucher disease patients treated with eliglustat. TRAZELGA project.Orphanet journal of rare diseases · 2023Article
- Development of a rare disease algorithm to identify persons at risk of Gaucher disease using electronic health records in the United States.Orphanet journal of rare diseases · 2023Article
- C-X-C Motif Chemokine Ligand 9 and Its CXCR3 Receptor Are the Salt and Pepper for T Cells Trafficking in a Mouse Model of Gaucher Disease.International journal of molecular sciences · 2021Article
- Economic burden and health related quality of life of ultra-rare Gaucher disease in China.Orphanet journal of rare diseases · 2021Article
- Current and emerging pharmacotherapy for Gaucher disease in pediatric populations.Expert opinion on pharmacotherapy · 2021Article
- Screening for Gaucher Disease Using Dried Blood Spot Tests: A Japanese Multicenter, Cross-sectional Survey.Internal medicine (Tokyo, Japan) · 2021Observational
- Novel Management and Screening Approaches for Haematological Complications of Gaucher's Disease.Journal of blood medicine · 2021Review
- Direct and indirect effects of the SARS-CoV-2 pandemic on Gaucher Disease patients in Spain: Time to reconsider home-based therapies?Blood cells, molecules & diseases · 2020Article
- Identification of a Reliable Biomarker Profile for the Diagnosis of Gaucher Disease Type 1 Patients Using a Mass Spectrometry-Based Metabolomic Approach.International journal of molecular sciences · 2020Article
- Identification of risk features for complication in Gaucher's disease patients: a machine learning analysis of the Spanish registry of Gaucher disease.Orphanet journal of rare diseases · 2020Article
- Cognitive decline and depressive symptoms: early non-motor presentations of parkinsonism among Egyptian Gaucher patients.Neurogenetics · 2020Article
- Genetic and clinical characteristics of Filipino patients with Gaucher disease.Molecular genetics and metabolism reports · 2018Article
- Recent advances in the diagnosis and management of Gaucher disease.Expert review of endocrinology & metabolism · 2018Article
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24 authors.
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Abstract
backgroundThe 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.
aimTo analyze the impact of ERT on the characteristics at time of diagnosis and initial complications in pediatric Gaucher disease patients.
methodsA 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).
resultsA 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).
conclusionsThe 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.
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