ArticleOrphanet journal of rare diseases2023
GAU-PED study for early diagnosis of Gaucher disease in children with splenomegaly and cytopenia.
Article in Orphanet journal of rare diseases, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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8 citing papers in PubMed, 8 citations in OpenAlex.
- Clinical and genetic landscape of neuronopathic gaucher disease in Ukraine: hepatosplenomegaly and diagnostic delay.Orphanet journal of rare diseases · 2026Article
- Study of Adult and Pediatric Spanish Patients with Cryptogenic Splenomegaly and Splenectomy.Diseases (Basel, Switzerland) · 2025Article
- Liver involvement in Gaucher disease type I: a retrospective single-center study from Ukraine.Frontiers in medicine · 2025Article
- Enzyme replacement therapy in infants and very young children with Gaucher disease using velaglucerase alfa: a single-center experience.Frontiers in pediatrics · 2025Article
- The Unmet Needs of Lysosomal Storage Disorders from Early Diagnosis to Caregiving Pathways: An Italian Perspective.Journal of clinical medicine · 2024Article
- Effects ofInternational journal of molecular sciences · 2024Article
- Noninvasive DBS-Based Approaches to Assist Clinical Diagnosis and Treatment Monitoring of Gaucher Disease.Biomedicines · 2023Article
- Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency.Orphanet journal of rare diseases · 2023Article
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Authors and funding
21 authors at 20 institutions in 2 countries.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundGaucher disease (GD) diagnosis can be delayed due to non-specific symptoms and lack of awareness, leading to unnecessary procedures and irreversible complications. GAU-PED study aims to assess GD prevalence in a high-risk pediatric population and the presence, if any, of novel clinical or biochemical markers associated with GD. MATERIALS AND
methodsDBS samples were collected and tested for β-glucocerebrosidase enzyme activity for 154 patients selected through the algorithm proposed by Di Rocco et al. Patients showing β-glucocerebrosidase activity below normal values were recalled to confirm the enzyme deficiency with the gold standard essay on cellular homogenate. Patients tested positive at the gold standard analysis were evaluated through GBA1 gene sequencing.
results14 out of 154 patients were diagnosed with GD, with a prevalence of 9.09% (5.06-14.78%, CI 95%). Hepatomegaly, thrombocytopenia, anemia, growth delay/deceleration, elevated serum ferritin, elevated Lyso-Gb1 and chitotriosidase were significantly associated with GD.
conclusionsGD prevalence in a pediatric population at high-risk appeared to be higher compared to high-risk adults. Lyso-Gb1 was associated with GD diagnosis. The algorithm proposed by Di Rocco et al. can potentially improve the diagnostic accuracy of pediatric GD, allowing the prompt start of therapy, aiming to reduce irreversible complications.
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