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Early diagnosis of Gaucher disease in pediatric patients: Proposal for a diagnostic algorithm
Author(s) -
Di Rocco Maja,
Andria Generoso,
Deodato Federica,
Giona Fiorina,
Micalizzi Concetta,
Pession Andrea
Publication year - 2014
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.25165
Subject(s) - medicine , disease , blood cancer , pediatrics , pediatric cancer , enzyme replacement therapy , cancer , intensive care medicine
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. Pediatr Blood Cancer 2014;61:1905–1909. © 2014 Wiley Periodicals, Inc.