Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency
Abstract Background GD and ASMD are lysosomal storage disorders that enter into differential diagnosis due to the possible overlap in their clinical manifestations. The availability of safe and effective enzymatic therapies has recently led many investigators to develop and validate new screening to...
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| Format: | Article |
| Language: | English |
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BMC
2023-07-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-023-02797-0 |
| _version_ | 1797773962335223808 |
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| author | Maja Di Rocco Carlo Dionisi Vici Alberto Burlina Francesco Venturelli Agata Fiumara Simona Fecarotta Maria Alice Donati Marco Spada Daniela Concolino Andrea Pession |
| author_facet | Maja Di Rocco Carlo Dionisi Vici Alberto Burlina Francesco Venturelli Agata Fiumara Simona Fecarotta Maria Alice Donati Marco Spada Daniela Concolino Andrea Pession |
| author_sort | Maja Di Rocco |
| collection | DOAJ |
| description | Abstract Background GD and ASMD are lysosomal storage disorders that enter into differential diagnosis due to the possible overlap in their clinical manifestations. The availability of safe and effective enzymatic therapies has recently led many investigators to develop and validate new screening tools, such as algorithms, for the diagnosis of LSDs where the lack of disease awareness or failure to implement newborn screening results in a delayed diagnosis. Results the proposed algorithm allows for the clinical and biochemical differentiation between GD and ASMD. It is based on enzyme activity assessed on dried blood spots by multiplexed tandem mass spectrometry (MS/MS) coupled to specific biomarkers as second-tier analysis. Conclusions we believe that this method will provide a simple, convenient and sensitive tool for the screening of a selected population that can be used by pediatricians and other specialists (such as pediatric hematologists and pediatric hepatologists) often engaged in diagnosing these disorders. |
| first_indexed | 2024-03-12T22:13:48Z |
| format | Article |
| id | doaj.art-8945f64473ae4b1884493f16f820f68a |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-03-12T22:13:48Z |
| publishDate | 2023-07-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-8945f64473ae4b1884493f16f820f68a2023-07-23T11:26:26ZengBMCOrphanet Journal of Rare Diseases1750-11722023-07-011811610.1186/s13023-023-02797-0Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiencyMaja Di Rocco0Carlo Dionisi Vici1Alberto Burlina2Francesco Venturelli3Agata Fiumara4Simona Fecarotta5Maria Alice Donati6Marco Spada7Daniela Concolino8Andrea Pession9Department of Pediatrics, Unit of Rare Diseases IRCCS Istituto Giannina GasliniBambino Gesù Children’HospitalDivision of Inherited Metabolic Diseases, Department of Diagnostic Services, University HospitalPediatric Unit, Istituti di Ricovero e Cura a Carattere Scientifico Azienda Ospedaliero- Universitaria di Bologna, University of BolognaReferral Center for Inherited Metabolic Disorders, Pediatric Clinical, University-Hospital “Gaspare Rodolico - San Marco”Federico II UniversityMetabolic and Neuromuscular Unit, Meyer HospitalDepartment of Pediatrics, University of TorinoDepartment of Science of Health, Pediatric Unit, Magna Graecia University of CatanzaroPediatric Unit, Istituti di Ricovero e Cura a Carattere Scientifico Azienda Ospedaliero- Universitaria di Bologna, University of BolognaAbstract Background GD and ASMD are lysosomal storage disorders that enter into differential diagnosis due to the possible overlap in their clinical manifestations. The availability of safe and effective enzymatic therapies has recently led many investigators to develop and validate new screening tools, such as algorithms, for the diagnosis of LSDs where the lack of disease awareness or failure to implement newborn screening results in a delayed diagnosis. Results the proposed algorithm allows for the clinical and biochemical differentiation between GD and ASMD. It is based on enzyme activity assessed on dried blood spots by multiplexed tandem mass spectrometry (MS/MS) coupled to specific biomarkers as second-tier analysis. Conclusions we believe that this method will provide a simple, convenient and sensitive tool for the screening of a selected population that can be used by pediatricians and other specialists (such as pediatric hematologists and pediatric hepatologists) often engaged in diagnosing these disorders.https://doi.org/10.1186/s13023-023-02797-0Selected population screeningLysosomal Storage DiseasesGaucher DiseaseAcid Sphingomyelinase DeficiencySplenomegaly |
| spellingShingle | Maja Di Rocco Carlo Dionisi Vici Alberto Burlina Francesco Venturelli Agata Fiumara Simona Fecarotta Maria Alice Donati Marco Spada Daniela Concolino Andrea Pession Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency Orphanet Journal of Rare Diseases Selected population screening Lysosomal Storage Diseases Gaucher Disease Acid Sphingomyelinase Deficiency Splenomegaly |
| title | Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency |
| title_full | Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency |
| title_fullStr | Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency |
| title_full_unstemmed | Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency |
| title_short | Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency |
| title_sort | screening for lysosomal diseases in a selected pediatric population the case of gaucher disease and acid sphingomyelinase deficiency |
| topic | Selected population screening Lysosomal Storage Diseases Gaucher Disease Acid Sphingomyelinase Deficiency Splenomegaly |
| url | https://doi.org/10.1186/s13023-023-02797-0 |
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