GAU-PED study for early diagnosis of Gaucher disease in children with splenomegaly and cytopenia
Abstract Background Gaucher 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 cl...
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| Format: | Article |
| Language: | English |
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BMC
2023-06-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-023-02760-z |
| _version_ | 1797801251462709248 |
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| author | Andrea Pession Maja Di Rocco Francesco Venturelli Barbara Tappino William Morello Nicola Santoro Paola Giordano Beatrice Filippini Simona Rinieri Giovanna Russo Katia Girardi Antonio Ruggiero Eulalia Galea Roberto Antonucci Nicola Tovaglieri Fulvio Porta Immacolata Tartaglione Fiorina Giona Franca Fagioli Alberto Burlina Pediatric Gaucher Study Group |
| author_facet | Andrea Pession Maja Di Rocco Francesco Venturelli Barbara Tappino William Morello Nicola Santoro Paola Giordano Beatrice Filippini Simona Rinieri Giovanna Russo Katia Girardi Antonio Ruggiero Eulalia Galea Roberto Antonucci Nicola Tovaglieri Fulvio Porta Immacolata Tartaglione Fiorina Giona Franca Fagioli Alberto Burlina Pediatric Gaucher Study Group |
| author_sort | Andrea Pession |
| collection | DOAJ |
| description | Abstract Background Gaucher 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 methods DBS 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. Results 14 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. Conclusions GD 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. |
| first_indexed | 2024-03-13T04:47:37Z |
| format | Article |
| id | doaj.art-92faecc5e2424f989cb71afd6db08634 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-03-13T04:47:37Z |
| publishDate | 2023-06-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-92faecc5e2424f989cb71afd6db086342023-06-18T11:24:40ZengBMCOrphanet Journal of Rare Diseases1750-11722023-06-0118111010.1186/s13023-023-02760-zGAU-PED study for early diagnosis of Gaucher disease in children with splenomegaly and cytopeniaAndrea Pession0Maja Di Rocco1Francesco Venturelli2Barbara Tappino3William Morello4Nicola Santoro5Paola Giordano6Beatrice Filippini7Simona Rinieri8Giovanna Russo9Katia Girardi10Antonio Ruggiero11Eulalia Galea12Roberto Antonucci13Nicola Tovaglieri14Fulvio Porta15Immacolata Tartaglione16Fiorina Giona17Franca Fagioli18Alberto Burlina19Pediatric Gaucher Study GroupPediatric Unit, S. Orsola – Malpighi Clinic, IRCCS Azienda Ospedaliero-Universitaria di BolognaUnit of Rare Diseases, Department of Pediatrics, Giannina Gaslini InstitutePediatric Unit, S. Orsola – Malpighi Clinic, IRCCS Azienda Ospedaliero-Universitaria di BolognaUnit of Rare Diseases, Department of Pediatrics, Giannina Gaslini InstitutePediatric Nephrology, Dialysis and Transplant Unit, Fondazione IRCCS Ca’ Granda, Ospedale Maggiore Policlinico Di MilanoPaediatric Oncology Department, Bari Policlinico General HospitalInterdisciplinary Department of Medicine, Aldo Moro UniversitySSD Oncoematologia Pediatrica U.O. Pediatria, Dipartimento Salute, Donna, Infanzia e Adolescenza Ospedale Infermi RiminiPediatric Onco-Hematology Unit, Azienda Ospedaliero-Universitaria Sant’Anna di FerraraDepartment of Clinical and Experimental Medicine, Paediatric Oncohematology Unit, University of Catania Medical SchoolDepartment of Pediatric Hematology and Oncology, Bambino Gesù Children’s Hospital, IRCCSPediatric Oncology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica Sacro CuoreDepartment of Pediatric Onco-Hematology, Pugliese Ciaccio HospitalPediatric Clinic, Department of Medical, Surgical and Experimental Sciences, University of SassariDepartment of Pediatrics, Niguarda HospitalChildren HospitalPediatric Hematology Unit, Department of Woman, Child and of General and Specialized Surgery, Università degli Studi della CampaniaHematology, Department of Translational and Precision Medicine, Sapienza University of Rome, AOU Policlinico Umberto IDepartment of Public Health and Paediatrics, Regina Margherita Children’s Hospital, University of TurinDivision of Inherited Metabolic Diseases, Reference Centre Expanded Newborn Screening, Department of Women’s and Children’s Health, University HospitalAbstract Background Gaucher 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 methods DBS 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. Results 14 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. Conclusions GD 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.https://doi.org/10.1186/s13023-023-02760-zGaucher diseaseLysosomal storage diseaseSplenomegalyCytopeniaThrombocytopenia |
| spellingShingle | Andrea Pession Maja Di Rocco Francesco Venturelli Barbara Tappino William Morello Nicola Santoro Paola Giordano Beatrice Filippini Simona Rinieri Giovanna Russo Katia Girardi Antonio Ruggiero Eulalia Galea Roberto Antonucci Nicola Tovaglieri Fulvio Porta Immacolata Tartaglione Fiorina Giona Franca Fagioli Alberto Burlina Pediatric Gaucher Study Group GAU-PED study for early diagnosis of Gaucher disease in children with splenomegaly and cytopenia Orphanet Journal of Rare Diseases Gaucher disease Lysosomal storage disease Splenomegaly Cytopenia Thrombocytopenia |
| title | GAU-PED study for early diagnosis of Gaucher disease in children with splenomegaly and cytopenia |
| title_full | GAU-PED study for early diagnosis of Gaucher disease in children with splenomegaly and cytopenia |
| title_fullStr | GAU-PED study for early diagnosis of Gaucher disease in children with splenomegaly and cytopenia |
| title_full_unstemmed | GAU-PED study for early diagnosis of Gaucher disease in children with splenomegaly and cytopenia |
| title_short | GAU-PED study for early diagnosis of Gaucher disease in children with splenomegaly and cytopenia |
| title_sort | gau ped study for early diagnosis of gaucher disease in children with splenomegaly and cytopenia |
| topic | Gaucher disease Lysosomal storage disease Splenomegaly Cytopenia Thrombocytopenia |
| url | https://doi.org/10.1186/s13023-023-02760-z |
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