Angouridaki C, Papageorgiou V, Tsavdaridou V, Giannousis M, Alexiou-Daniel S
Department of Immunology, Laboratory of Microbiology, AHEPA University Hospital, Thessaloniki, Greece.
Hippokratia. 2008 Apr;12(2):119-21.
It is presented herein a case of a family, four members of which suffer from hereditary bisalbuminemia. The abnormality was initially detected in a 29-year old male, by serum protein electrophoresis (SPE), during the investigation for possible multiple sclerosis. SPE also revealed the presence of a double albumin band in sera of the patient's sister, father and grandmother, almost confirming the inherited (genetic) form of bisalbuminemia. Possible causes related with the acquired form of bisalbuminemia were excluded for all examined individuals. SPE was performed by both automatic capillary zone electrophoresis and agaroze gel electrophoresis. All tested samples were immunofixated with special antisera, in order to exclude the presence of monoclonal fractions. Total albumin, total proteins and immunoglobulins varied in normal ranges. The relative mobility of the albumin variant was determined by a simple mixing experiment, which gave evidence of the fast-type form of inherited bisalbuminemia. This is the first report of hereditary bisalbuminemia in Greece.
本文介绍了一个家庭的病例，该家庭中有四名成员患有遗传性双白蛋白血症。这种异常最初是在一名29岁男性接受可能的多发性硬化症检查时，通过血清蛋白电泳（SPE）检测到的。SPE还显示患者的姐姐、父亲和祖母的血清中存在双白蛋白带，几乎证实了双白蛋白血症的遗传（基因）形式。所有受检个体均排除了与获得性双白蛋白血症相关的可能原因。SPE通过自动毛细管区带电泳和琼脂糖凝胶电泳进行。所有测试样本均用特殊抗血清进行免疫固定，以排除单克隆组分的存在。总白蛋白、总蛋白和免疫球蛋白在正常范围内变化。通过简单的混合实验确定了白蛋白变体的相对迁移率，该实验证明了遗传性双白蛋白血症的快速型形式。这是希腊关于遗传性双白蛋白血症的首例报告。
