Suppr超能文献

[家族性骨髓瘤。关于一例病例]

[Familial myeloma. Apropos of a case].

作者信息

Hubert D, Thomas M, Krulik M, de Gramont A, Brissaud P, Sirinelli A, Debray J

出版信息

Rev Med Interne. 1985 Oct;6(4):447-53. doi: 10.1016/s0248-8663(85)80105-3.

Abstract

2 cases of multiple myeloma, both with IgG kappa, are reported in a man and his daughter. 33 other cases of myeloma involving two or more first degree relatives have been reported in the literature. Reported cases showed no major specific characteristics of the myelomas involved. Monoclonal protein family members were rarely identical. Our observation of identical monoclonal protein in two family members has only been found in 4 other reports. Occurrence of several cases of myeloma in one family is unlikely to be due to chance alone and the possibility of familial myeloma must be considered. Reports of benign monoclonal gammapathy in other members of the family of a patient with myeloma is also in favor of genetic factors. HLA-typing has shown an increase in frequency of the 4c complex and HLA-A9 in myeloma, and the latter was present in our patients. A genetic predisposition is further supported by experimental observations in mice. Finally, the short delay between onsets of myeloma in family members, less than 5 years in 20 families out of 27, and 4 years in our case, suggests a possible role of environmental factors.

摘要

报告了一名男性及其女儿患多发性骨髓瘤的2个病例,二者均为IgG κ型。文献中还报道了另外33例骨髓瘤累及两个或更多一级亲属的病例。报告的病例未显示所涉骨髓瘤的主要特定特征。单克隆蛋白家族成员很少相同。我们在两个家族成员中观察到相同单克隆蛋白的情况仅在其他4篇报告中出现过。一个家族中出现多例骨髓瘤不太可能仅由偶然因素导致,必须考虑家族性骨髓瘤的可能性。骨髓瘤患者家族中其他成员出现良性单克隆丙种球蛋白病的报告也支持遗传因素。HLA分型显示骨髓瘤中4c复合体和HLA - A9的频率增加,我们的患者中存在后者。小鼠实验观察结果进一步支持了遗传易感性。最后,家族成员中骨髓瘤发病之间的间隔时间较短,27个家族中有20个家族间隔不到5年,我们的病例间隔为4年,这表明环境因素可能起作用。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验