The Gaucher registry -: Demographics and disease characteristics of 1698 patients with Gaucher disease
The Gaucher registry -: Demographics and disease characteristics of 1698 patients with Gaucher disease
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DOI：
10.1001/archinte.160.18.2835
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发表时间：
2000-10-09
影响因子：
--
通讯作者：
Zimran, A
中科院分区：
文献类型：
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作者：
Charrow, J;Andersson, HC;Zimran, A
背景：高谢病登记处是世界上最大的高谢病患者数据库，启动该数据库是为了更好地描述疾病的进行性和确定最佳的治疗方法。这份报告描述了1698名接受酶替代疗法的GD患者的人口学和临床特征。方法：邀请全球治疗GD患者的医生提交前瞻性和回顾性数据，并使用标准化的数据收集表格进行中央处理和回顾。结果：大多数患者来自美国(45%)和以色列(17%)，但患者来自38个国家。大多数人(94%)患有1型GD，不到1%的人患有2型，5%的人患有3型。突变等位基因频率数据显示，最常见的等位基因是N370S(53%)、L444P(18%)、84GG(7%)和IVS2+1(2%)。25%的L444P纯合子(13/52例)具有1型GD表型。N370S/N370S基因型患者的平均诊断年龄为27.2岁(SD，19.7岁)，L444P/L444P患者的平均诊断年龄为2.3岁(SD，3.2岁)。分别有63%和94%的患者报告了骨痛和放射性骨病的病史；两者在脾患者中都比在脾患者中更有可能。脾和肝的平均体积分别是正常的19.8倍和2.0倍。贫血和血小板减少的发生率分别为和56%。13%的脾患者存在血小板减少。结论：由于独特的大样本量，Gaucher注册表允许全面了解GD的临床谱系。该注册中心将有助于评估特定治疗在GD中的效果，以及环境、种族和基因对该疾病自然病史的可能影响。
Background: The Gaucher Registry, the largest database of patients with Gaucher disease (GD) worldwide, was initiated to better delineate the progressive nature of the disorder and determine optimal therapy. This report describes the demographic and clinical characteristics of 1698 patients with GD before they received enzyme replacement therapy.Methods: Physicians worldwide who treat patients with GD were invited to submit prospective and retrospective data for an ongoing registry, using standardized data collection forms, for central processing and review.Results: Most patients were from the United States (45%) and Israel (17%), but patients are from 38 countries. Most (94%) had type 1 GD, fewer than 1% had type 2, and 5% had type 3. Mutant allele frequency data, available for 45% of patients, showed the most common alleles to be N370S (53%), L444P (18%), 84GG (7%), and IVS2+1 (2%). Twenty-five percent of L444P homozygotes (13 of 52 patients) had type 1 GD phenotype. Mean age at diagnosis in patients with the N370S/N370S genotype was 27.2 years (SD, 19.7 years); in L444P/L444P patients, 2.3 years (SD, 3.2 years). Histories of bone pain and radiological bone disease were reported by 63% and 94% of patients, respectively; both were more likely in asplenic patients than in patients with spleens. Mean spleen and liver volumes were 19.8 and 2.0 multiples of normal, respectively. Anemia and thrombocytopenia were present in 64% and 56%, respectively. Thrombocytopenia was present in 13% of asplenic patients.Conclusions: The Gaucher Registry permits a comprehensive understanding of the clinical spectrum of GD because of the uniquely large sample size. The Registry will be useful in evaluating the effects of specific therapies in GD and the possible influences of environment, ethnicity, and genotype on the natural history of the disorder.