Revised recommendations for the management of Gaucher disease in children

Revised recommendations for the management of Gaucher disease in children

Author Kaplan, Paige Google Scholar
Baris, Hagit Google Scholar
De Meirleir, Linda Google Scholar
Di Rocco, Maja Google Scholar
El-Beshlawy, Amal Google Scholar
Huemer, Martina Google Scholar
Martins, Ana Maria Autor UNIFESP Google Scholar
Nascu, Ioana Google Scholar
Rohrbach, Marianne Google Scholar
Steinbach, Lynne Google Scholar
Cohen, Ian J. Google Scholar
Institution Univ Penn
Tel Aviv Univ
UZ Brussels
Gaslini Inst
Cairo Univ
LKH Bregenz
Universidade Federal de São Paulo (UNIFESP)
Childrens Hosp Emergency Cluj
Univ Childrens Hosp
Univ Calif San Francisco
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.
Keywords Gaucher disease type 1
Gaucher disease type 2
Gaucher disease type 3
Enzyme replacement therapy
Genetic counseling
Disease management
Treatment recommendations
Language English
Sponsor Genzyme Corporation
Date 2013-04-01
Published in European Journal of Pediatrics. New York: Springer, v. 172, n. 4, p. 447-458, 2013.
ISSN 0340-6199 (Sherpa/Romeo, impact factor)
Publisher Springer
Extent 447-458
Access rights Closed access
Type Review
Web of Science ID WOS:000316682700003

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