A Report from the International Collaborative Gaucher Group (ICGG) Gaucher Registry

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]
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.

科研通智能强力驱动
Strongly Powered by AbleSci AI
更新
大幅提高文件上传限制,最高150M (2024-4-1)

科研通是完全免费的文献互助平台,具备全网最快的应助速度,最高的求助完成率。 对每一个文献求助,科研通都将尽心尽力,给求助人一个满意的交代。
实时播报
聪慧的惊蛰完成签到,获得积分10
1秒前
鱼雁发布了新的文献求助10
1秒前
4秒前
天天发布了新的文献求助10
4秒前
4秒前
4秒前
传奇3应助AT采纳,获得10
5秒前
浅尝离白应助Airey采纳,获得10
5秒前
5秒前
sheep发布了新的文献求助10
7秒前
星辰大海应助楠楠2001采纳,获得10
8秒前
阿冰狸子发布了新的文献求助10
8秒前
asd发布了新的文献求助20
9秒前
桐桐应助xiaoblue采纳,获得30
9秒前
早上好发布了新的文献求助10
10秒前
adam发布了新的文献求助10
10秒前
安详之玉完成签到,获得积分10
13秒前
纯真的飞烟完成签到,获得积分10
13秒前
14秒前
16秒前
16秒前
开放幻丝完成签到 ,获得积分10
16秒前
yy完成签到,获得积分10
16秒前
17秒前
17秒前
19秒前
19秒前
20秒前
钱凯发布了新的文献求助40
20秒前
白玉完成签到 ,获得积分10
20秒前
坚强的严青应助大橙子采纳,获得30
21秒前
通研科发布了新的文献求助10
21秒前
研友_VZG7GZ应助时7采纳,获得10
21秒前
872930发布了新的文献求助10
21秒前
科研通AI2S应助友好的半仙采纳,获得10
22秒前
听闻发布了新的文献求助10
22秒前
bjyx发布了新的文献求助30
22秒前
22秒前
23秒前
枳甜发布了新的文献求助10
24秒前
高分求助中
Sustainability in Tides Chemistry 2800
The Young builders of New china : the visit of the delegation of the WFDY to the Chinese People's Republic 1000
юрские динозавры восточного забайкалья 800
English Wealden Fossils 700
Foreign Policy of the French Second Empire: A Bibliography 500
Chen Hansheng: China’s Last Romantic Revolutionary 500
Classics in Total Synthesis IV 400
热门求助领域 (近24小时)
化学 医学 生物 材料科学 工程类 有机化学 生物化学 物理 内科学 纳米技术 计算机科学 化学工程 复合材料 基因 遗传学 催化作用 物理化学 免疫学 量子力学 细胞生物学
热门帖子
关注 科研通微信公众号,转发送积分 3146066
求助须知:如何正确求助?哪些是违规求助? 2797486
关于积分的说明 7824486
捐赠科研通 2453874
什么是DOI,文献DOI怎么找? 1305891
科研通“疑难数据库(出版商)”最低求助积分说明 627598
版权声明 601491