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两兄弟患多发性骨髓瘤。其亲属的免疫球蛋白水平。

Multiple myeloma in two brothers. Immunoglobulin levels among their relatives.

作者信息

Wiedermann D, Urban P, Wiedermann B, Cídl K

出版信息

Neoplasma. 1976;23(2):197-207.

PMID:934388
Abstract

The reports on the occurrence of myeloma in two or more members of the same family are very scanty, and until present, only about twenty observations of the familial occurrence have been reported. In this paper the observation of multiple myeloma in two brothers is described. The clinical diagnosis was confirmed by the bone marrow biopsy which showed an infiltration of abnormal plasma cells. X-ray examination of the skeleton revealed typical osteolytic changes in one patient and diffuse osteoporosis in the other. Moreoever both patients had a massive monoclonal protein fraction in serum and Bence-Jones protein in urine. In one case the monoclonal serum protein was of the IgG-K type and in the other, of the IgA-K type. Thus the antigenic determinants were different in the class specificity. Immunoglobulin studies among healthy relatives of the two brothers demonstrated much higher incidence of the polyclonal increase in one immunoglobulin class than could be expected in the population. Without evidence of monoclonal serum protein, unusally high IgA serum levels, more than 500 mg/100 ml, were observed in seven of seventeen healthy family members. This could be explained on genetic basis in connection with the familial occurrence of myeloma either by an abnormal distribution of plasma cell clones or by their abnormal activity. However, a defective control mechanism in protein synthesis may also be taken into consideration.

摘要

关于骨髓瘤在同一家族两名或更多成员中发病的报道非常稀少,到目前为止,仅报道了约20例家族性发病的观察病例。本文描述了对两名兄弟患多发性骨髓瘤的观察情况。临床诊断通过骨髓活检得以证实,活检显示有异常浆细胞浸润。骨骼的X线检查显示,一名患者有典型的溶骨性改变,另一名患者有弥漫性骨质疏松。此外,两名患者血清中均有大量单克隆蛋白成分,尿中均有本周蛋白。其中一例单克隆血清蛋白为IgG-κ型,另一例为IgA-κ型。因此,抗原决定簇在类别特异性上有所不同。对这两名兄弟的健康亲属进行的免疫球蛋白研究表明,某一免疫球蛋白类别中多克隆增加的发生率远高于人群中的预期。在没有单克隆血清蛋白证据的情况下,17名健康家庭成员中有7人观察到IgA血清水平异常高,超过500mg/100ml。这可以从遗传角度结合骨髓瘤的家族性发病来解释,要么是浆细胞克隆的异常分布,要么是它们的异常活性。然而,蛋白质合成中存在缺陷的控制机制也可能是一个考虑因素。

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