Abstract | OBJECTIVE: METHODS: During the period 2004-2009 in our service 11 children were hospitalized and treated for Gaucher's disease: 9 children with type 1, and 2 children with type 3 of the disease. The enzymatic examinations of the biomarker chitotriosidase were performed in Sahlgren's University Hospital, Mölndal Sweden; the DNA analysis was performed in the Children's Hospital & Regional Medical Center, Seattle, USA. FINDINGS: We are presenting the biological and genetic molecular data of the children. In our case series, one year after the treatment started, the hemoglobin level was normalized; the platelet count was normalized in 7 patients after one year of treatment, and in 9 patients after two years of treatment. The hemorrhagic syndrome stopped after 6 months of treatment. Chitotriosidase values decreased 10-20 times the initial value, after one year of treatment and in one case the value reached the normal range. The treatment with Cerezyme® has also improved the visceral and biological signs. Anomalies of the oculomotricity were less sensitive to the treatment. CONCLUSION:
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Authors | Behar Shehi, Gëzim Boçari, Gentian Vyshka, Rezar Xhepa, Dritan Alushani |
Journal | Iranian journal of pediatrics
(Iran J Pediatr)
Vol. 21
Issue 1
Pg. 1-7
(Mar 2011)
ISSN: 2008-2150 [Electronic] Netherlands |
PMID | 23056756
(Publication Type: Journal Article)
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