医学
骨痛
儿科
疾病登记处
人口
贫血
疾病
内科学
酶替代疗法
环境卫生
作者
Neal J. Weinreb,Stephan Vom Dahl
出处
期刊:Blood
[American Society of Hematology]
日期:2008-11-16
卷期号:112 (11): 3549-3549
被引量:3
标识
DOI:10.1182/blood.v112.11.3549.3549
摘要
Abstract Objective: To report the latest data on patients with Gaucher disease (GD) enrolled in the ICGG Gaucher Registry. Methods: Data from all patients enrolled in the ICGG Gaucher Registry from 1991 through 2007 were analyzed. Results: As of December 31, 2007, 4,936 GD patients were enrolled in the ICGG Gaucher Registry by 772 physicians in 60 countries. The countries with the largest numbers of patients were the United States (36%), Israel (14%) and Brazil (10%). The majority of patients were diagnosed with GD between 4 and 30 years (mean age, 19 years). The most common genotypes were N370S/N370S (31%), N370S/L444P (16%), N370S/Rare Allele (13%), and N370S/unknown (11%). The most frequent genotype for patients with neuronopathic GD was L444P/L444P (68%). At diagnosis, anemia was reported in 37% of patients and moderate to severe thrombocytopenia in 60%. Splenomegaly was reported in 86% of patients (>5 multiples of normal [MN]) and hepatomegaly in 65% (liver volume >1.25 MN). Bone pain was present in 34% of patients and radiologic bone disease was reported in 83%. Long-term treatment with imiglucerase resulted in improved haematological parameters, decreased visceral involvement, decreased bone pain and abolition of bone crises. Conclusions: For GD and other rare “ultra-orphan” diseases, a large longitudinal international disease registry provides the best means to investigate the natural history of the disease and the long-term effects of therapy. The strength of the ICGG Gaucher Registry data is the inclusion of a large, worldwide patient population with long periods of follow-up data, allowing for studies not otherwise possible.
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