title: Early diagnosis of Gaucher disease in pediatric patients: proposal for a diagnostic algorithm.
abstract: Gaucher disease (GD) is caused by an enzyme deficiency that leads to the accumulation of glycolipids in various organs. Although the signs and symptoms of GD emerge in childhood in the majority of patients, the disease often remains unrecognized for many years with delay of benefits of therapy or development of irreversible complications. Based on published data and data from the International Collaborative Gaucher Group Registry, an algorithm has been drafted for early diagnosis of GD in pediatric patients. It will help hematologists in promoting a timely diagnosis and early access to therapy for pediatric patients with GD.
authors.affiliation: Unit of Rare Diseases, Department of Pediatrics, Gaslini Institute, Genoa, Italy.
authors.forename: Maja
authors.initials: M
authors.lastname: Di Rocco
authors.forename: Generoso
authors.initials: G
authors.lastname: Andria
authors.forename: Federica
authors.initials: F
authors.lastname: Deodato
authors.forename: Fiorina
authors.initials: F
authors.lastname: Giona
authors.forename: Concetta
authors.initials: C
authors.lastname: Micalizzi
authors.forename: Andrea
authors.initials: A
authors.lastname: Pession
mesh_terms: D000465:Algorithms; D001706:Biopsy; D001853:Bone Marrow / Q000473:pathology; D002648:Child; D042241:Early Diagnosis; D005776:Gaucher Disease / Q000175:diagnosis* / Q000201:enzymology / Q000473:pathology; D006801:Humans; D013163:Splenomegaly / Q000175:diagnosis
keywords: Gaucher disease; algorithm; pediatric age