Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency

Orphanet Journal of Rare Diseases

Research

Carlo Dionisi Vici¹  Maja Di Rocco²  Marco Spada³  Daniela Concolino⁴  Alberto Burlina⁵  Simona Fecarotta⁶  Maria Alice Donati⁷  Andrea Pession⁸  Francesco Venturelli⁸  Agata Fiumara⁹ 

[1] Bambino Gesù Children’Hospital, Rome, Italy;Department of Pediatrics, Unit of Rare Diseases IRCCS Istituto Giannina Gaslini, Genoa, Italy;Department of Pediatrics, University of Torino, Torino, Italy;Department of Science of Health, Pediatric Unit, Magna Graecia University of Catanzaro, Catanzaro, Italy;Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, Padua, Italy;Federico II University, Naples, Italy;Metabolic and Neuromuscular Unit, Meyer Hospital, Florence, Italy;Pediatric Unit, Istituti di Ricovero e Cura a Carattere Scientifico Azienda Ospedaliero- Universitaria di Bologna, University of Bologna, Bologna, Italy;Referral Center for Inherited Metabolic Disorders, Pediatric Clinical, University-Hospital “Gaspare Rodolico - San Marco”, Catania, Italy;Clinical and Experimental Medicine Department, University of Catania, Catania, Italy;

关键词: Selected population screening;    Lysosomal Storage Diseases;    Gaucher Disease;    Acid Sphingomyelinase Deficiency;    Splenomegaly;   

DOI  :  10.1186/s13023-023-02797-0

 received in 2022-10-04, accepted in 2023-07-05,  发布年份 2023

来源: Springer

【 摘 要 】

BackgroundGD 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.Resultsthe 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.Conclusionswe 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.

【 授权许可】

CC BY   
© The Author(s) 2023

【 图 表 】

Fig. 1