Leo A, Cartron J P, Strittmatter M, Rowe G, Roelcke D
Institut für Immunologie, Ruprecht-Karls-Universität Heidelberg, Germany.
Beitr Infusionsther Transfusionsmed. 1997;34:185-9.
The recently identified molecular structure of the Colton blood group system is characterized by an amino acid substitution at position 45 (Colton a: alanine, Colton b: valine) of the archetypical water channel protein Aquaporin-1 (AQP1), which regulates water homeostasis in the erythrocyte membrane and in the proximal tubule of the nephron. We identified a patient with the unique constellation of an antibody with the specificity anti-Coa and the Co (a+) phenotype. The serological antigen typing was confirmed by molecular typing with PCR-RFLP. The antibody has to be interpreted as an antibody against a partial Colton a antigen or as an autoantibody despite a negative direct antiglobulin test (DAT). The patient is suffering from chronic renal insufficiency of unknown origin, rising speculation about a pathophysiological relationship between the serological constellation and the clinical disease under the aspect of localization of the Colton antigens on AQP1.
最近确定的科尔顿血型系统的分子结构，其特征在于典型的水通道蛋白水通道蛋白-1（AQP1）第45位氨基酸发生了取代（科尔顿a型：丙氨酸，科尔顿b型：缬氨酸），该蛋白调节红细胞膜和肾单位近端小管中的水平衡。我们鉴定出一名患者，其具有抗Coa特异性抗体和Co（a+）表型这一独特组合。血清学抗原分型通过PCR-RFLP分子分型得以证实。尽管直接抗球蛋白试验（DAT）呈阴性，但该抗体必须被解释为针对部分科尔顿a抗原的抗体或自身抗体。该患者患有病因不明的慢性肾功能不全，鉴于科尔顿抗原在AQP1上的定位，人们越来越推测血清学组合与临床疾病之间存在病理生理关系。
