Immunoglobulin and free light chain abnormalities in Gaucher disease type I: data from an adult cohort of 63 patients and review of the literature.
Immunoglobulin and free light chain abnormalities in Gaucher disease type I: data from an adult cohort of 63 patients and review of the literature.
复制标题
DOI：
10.1007/s00277-008-0441-8
复制
发表时间：
2008-06
影响因子：
3.5
通讯作者：
Hollak, C. E. M.
中科院分区：
文献类型：
--
作者：
de Fost, M.;Out, T. A.;de Wilde, F. A.;Tjin, E. P. M.;Pals, S. T.;van Oers, M. H. J.;Boot, R. G.;Aerts, J. F. M. G.;Maas, M.;vom Dahl, S.;Hollak, C. E. M.
I型戈谢病是最常见的溶酶体贮积症，与免疫球蛋白异常有关。我们研究了一个I型成人戈谢病队列（N = 63）的患病率、危险因素、发病机制和酶相关疗法（ERT）对丙种球蛋白病的影响，并将结果与现有文献的综述相关。在我们的成人GD I队列中，在41%和19%的患者中发现了多克隆丙种球蛋白病和意义不明的单克隆丙种球蛋白病（MGUS）。这些结果与文献中的数据相似，并与已描述的多发性骨髓瘤（MM）风险增加相对应。在我们的队列中，MGUS的患病率随年龄增加而增加，但与疾病严重程度或暴露时间无关。免疫球蛋白的游离轻链的血清水平进行了测量，并没有发现预测MGUS或MM的发展。促炎和抗炎细胞因子、生长因子和趋化因子的水平，特别是那些参与炎症和B细胞功能的细胞因子，在GD I中受到干扰，其中白细胞介素-10和肺和活化调节趋化因子的升高最令人印象深刻和组成。纵向数据表明ERT对丙种球蛋白病的发生和进展具有有益作用。
Gaucher disease type I, the most common lysosomal storage disorder, is associated with immunoglobulin abnormalities. We studied the prevalence, risk factors, pathogenesis, and effect of enzyme relation therapy (ERT) on gammopathies in an adult Gaucher disease type I cohort (N = 63) and related the results to a review of the currently available literature. Polyclonal gammopathies and monoclonal gammopathy of undetermined significance (MGUS) in our adult GD I cohort were found in 41% and 19% of patients. These results are similar to the data from the literature and correspond to the increased risk of multiple myeloma (MM) that has been described. The prevalence of MGUS in our cohort increased with age but was not associated with disease severity or exposure time. The serum levels of free light chains of immunoglobulins were measured and were not found predictive for the development of MGUS or MM. Levels of pro- as well as anti-inflammatory cytokines, growth factors, and chemokines, especially those involved in inflammation and B-cell function, are disturbed in GD I, with the most impressive and consisting elevations for interleukin-10 and pulmonary and activation-regulated chemokine. A beneficial effect of ERT on the occurrence and progression of gammopathies was suggested from longitudinal data.
登录
查看更多内容
影响因子：
3.8
作者：
Altarescu, G;Zimran, A;Elstein, D
通讯作者：
Elstein, D
影响因子：
13.3
作者：
Altarescu, G;Phillips, M;Mates, M
通讯作者：
Mates, M
影响因子：
15.9
作者：
GERY, I;ZIGLER, JS;BARRANGER, JA
通讯作者：
BARRANGER, JA
影响因子：
3.5
作者：
Boven, LA;van Meurs, M;Laman, JD
通讯作者：
Laman, JD
影响因子：
45.3
作者：
Greipp, PR;San Miguel, J;Westin, J
通讯作者：
Westin, J