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Outcome of Gaucher Disease in India: Lessons from Prevalent Diagnostic and Therapeutic Practices.
- Source :
-
Indian pediatrics [Indian Pediatr] 2016 Aug 08; Vol. 53 (8), pp. 685-8. Date of Electronic Publication: 2016 Jun 01. - Publication Year :
- 2016
-
Abstract
- Objective: To study disease severity and response to enzyme replacement therapy in Gaucher disease.<br />Methods: Updated data was captured from records of 37 patients (35 reported previously) with confirmed diagnosis of Gaucher disease from January 1995 through December 2011 (31, 83.8 %) and prospectively from January 2012 through June 2013 (6, 16.2 %). Severity of manifestations was determined by Gaucher disease Severity Score Index. Response to enzyme replacement therapy was assessed in terms of attainment of therapeutic goals.<br />Results: Moderate to severe manifestations (domain score of > 2) were observed in treated patients at baseline (83%, 58%, 66% and 25% for anemia, thrombocytopenia, hepatomegaly and leucopenia, respectively and 100% for splenomegaly and elevated plasma chitotriosidase). None of the 11 patients treated with synthetic enzyme (average annual dose 23 to 53 units/kg) attained all therapeutic goals in the recommended time frame, particularly the visceral, skeletal and growth domains.<br />Conclusion: Early onset of moderate to severe disease in Indian patients mandates early therapy with optimum doses to ensure attainment of all recommended therapeutic goals.
Details
- Language :
- English
- ISSN :
- 0974-7559
- Volume :
- 53
- Issue :
- 8
- Database :
- MEDLINE
- Journal :
- Indian pediatrics
- Publication Type :
- Academic Journal
- Accession number :
- 27395836
- Full Text :
- https://doi.org/10.1007/s13312-016-0910-4