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: Maja Di Rocco, Generoso Andria, Federica Deodato, Fiorina Giona, Concetta Micalizzi, Andrea Pession
• Journal: Pediatric blood & cancer (Pediatr Blood Cancer) Vol. 61 Issue 11 Pg. 1905-9 (Nov 2014) ISSN: 1545-5017 [Electronic] United States
• PMID: 25131373 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)
• Copyright: © 2014 Wiley Periodicals, Inc.

Topics

• Algorithms
• Biopsy
• Bone Marrow (pathology)
• Child
• Early Diagnosis
• Gaucher Disease (diagnosis, enzymology, pathology)
• Humans
• Splenomegaly (diagnosis)