Revised recommendations for the management of Gaucher disease in children

Show simple item record Kaplan, Paige Baris, Hagit De Meirleir, Linda Di Rocco, Maja El-Beshlawy, Amal Huemer, Martina Martins, Ana Maria [UNIFESP] Nascu, Ioana Rohrbach, Marianne Steinbach, Lynne Cohen, Ian J. 2016-01-24T14:31:30Z 2016-01-24T14:31:30Z 2013-04-01
dc.identifier.citation European Journal of Pediatrics. New York: Springer, v. 172, n. 4, p. 447-458, 2013.
dc.identifier.issn 0340-6199
dc.description.abstract Gaucher disease is an inherited pan-ethnic disorder that commonly begins in childhood and is caused by deficient activity of the lysosomal enzyme glucocerebrosidase. Two major phenotypes are recognized: non-neuropathic (type 1) and neuropathic (types 2 and 3). Symptomatic children are severely affected and manifest growth retardation, delayed puberty, early-onset osteopenia, significant splenomegaly, hepatomegaly, thrombocytopenia, anemia, severe bone pain, acute bone crises, and fractures. Symptomatic children with types 1 or 3 should receive enzyme replacement therapy, which will prevent debilitating and often irreversible disease progression and allow those with non-neuropathic disease to lead normal healthy lives. Children should be monitored every 6 months (physical exam including growth, spleen and liver volume, neurologic exam, hematologic indices) and have one to two yearly skeletal assessments (bone density and imaging, preferably with magnetic resonance, of lumbar vertebrae and lower limbs), with specialized cardiovascular monitoring for some type 3 patients. Response to treatment will determine the frequency of monitoring and optimal dose of enzyme replacement. Treatment of children with type 2 (most severe) neuropathic Gaucher disease is supportive. Pre-symptomatic children, usually with type 1 Gaucher, increasingly are being detected because of affected siblings and screening in high-prevalence communities. in this group, annual examinations (including bone density) are recommended. However, monitoring of asymptomatic children with affected siblings should be guided by the age and severity of manifestations in the first affected sibling. Treatment is necessary only if signs and symptoms develop. Conclusion: Early detection and treatment of symptomatic types 1 and 3 Gaucher disease with regular monitoring will optimize outcome. Pre-symptomatic children require regular monitoring. Genetic counseling is important. en
dc.description.sponsorship Genzyme Corporation
dc.description.sponsorship Genzyme
dc.description.sponsorship Actelion
dc.description.sponsorship Shire
dc.format.extent 447-458
dc.language.iso eng
dc.publisher Springer
dc.relation.ispartof European Journal of Pediatrics
dc.rights Acesso restrito
dc.subject Gaucher disease type 1 en
dc.subject Gaucher disease type 2 en
dc.subject Gaucher disease type 3 en
dc.subject Glucocerebrosidase en
dc.subject Glucocerebroside en
dc.subject Enzyme replacement therapy en
dc.subject Genetic counseling en
dc.subject Monitoring en
dc.subject Disease management en
dc.subject Treatment recommendations en
dc.title Revised recommendations for the management of Gaucher disease in children en
dc.type Resenha
dc.contributor.institution Univ Penn
dc.contributor.institution Tel Aviv Univ
dc.contributor.institution UZ Brussels
dc.contributor.institution Gaslini Inst
dc.contributor.institution Cairo Univ
dc.contributor.institution LKH Bregenz
dc.contributor.institution Universidade Federal de São Paulo (UNIFESP)
dc.contributor.institution Childrens Hosp Emergency Cluj
dc.contributor.institution Univ Childrens Hosp
dc.contributor.institution Univ Calif San Francisco
dc.description.affiliation Univ Penn, Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA
dc.description.affiliation Tel Aviv Univ, Sackler Fac Med, Rabin Med Ctr, Beilinson Schneider Gaucher Clin, IL-69978 Tel Aviv, Israel
dc.description.affiliation UZ Brussels, Brussels, Belgium
dc.description.affiliation Gaslini Inst, Div Pediat 2, Rare Dis Unit, Genoa, Italy
dc.description.affiliation Cairo Univ, Dept Pediat, Sch Med, Cairo, Egypt
dc.description.affiliation LKH Bregenz, Dept Pediat, Bregenz, Austria
dc.description.affiliation Universidade Federal de São Paulo, Ctr Reference Inborn Errors Metab, São Paulo, Brazil
dc.description.affiliation Childrens Hosp Emergency Cluj, Ctr Genet Dis, Cluj Napoca, Romania
dc.description.affiliation Univ Childrens Hosp, Div Metab, Connect Tissue Unit, Zurich, Switzerland
dc.description.affiliation Univ Calif San Francisco, Dept Radiol, San Francisco, CA USA
dc.description.affiliation Tel Aviv Univ, Beilinson Schneider Gaucher Clin, Dept Pediat Hematol Oncol, Schneider Childrens Med Ctr Israel, IL-69978 Tel Aviv, Israel
dc.description.affiliation Tel Aviv Univ, Sackler Fac Med, IL-69978 Tel Aviv, Israel
dc.description.affiliationUnifesp Universidade Federal de São Paulo, Ctr Reference Inborn Errors Metab, São Paulo, Brazil
dc.identifier.doi 10.1007/s00431-012-1771-z
dc.description.source Web of Science
dc.identifier.wos WOS:000316682700003


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