Avgoustou Elena, Kounatidis Dimitris, Vallianou Natalia G, Karampela Irene, Stratigou Theodora, Dalamaga Maria
2th Department of Internal Medicine, Medical School, National & Kapodistrian University of Athens, Hippokratio General Hospital, 11527, Athens, Greece.
Diabetes Center, First Department of Propaedeutic Internal Medicine, Medical School, National and Kapodistrian University of Athens, Laiko General Hospital, 11527, Athens, Greece.
Metabol Open. 2024 Jul 30;23:100307. doi: 10.1016/j.metop.2024.100307. eCollection 2024 Sep.
Bisalbuminemia is a rare, typically benign condition marked by the presence of a bifid albumin band on serum protein electrophoresis. It can either be inherited due to a point mutation or acquired in association with various medical conditions, most commonly diabetes mellitus. Bisalbuminuria, the presence of bifid albumin in urine, may or may not accompany bisalbuminemia. Both conditions are often discovered incidentally during screening for monoclonal gammopathy. Bisalbuminemia and related variants provide insights into albumin's genetic diversity and functional roles, influencing clinical diagnostics and research in human genetics. Understanding these variants aids in distinguishing benign conditions from potential disease states, guiding appropriate clinical management. In this case-based review, we present a case of hereditary bisalbuminemia identified unexpectedly during an investigation of a positive Direct Antiglobulin Test Coombs in an adult female patient. This review aims to highlight the key features of bisalbuminemia, a rare condition that should be recognized by clinicians.
双白蛋白血症是一种罕见的、通常为良性的病症,其特征是血清蛋白电泳上出现双叉白蛋白条带。它既可能因点突变而遗传,也可能与各种疾病相关而获得,最常见的是糖尿病。双白蛋白尿症,即尿液中存在双叉白蛋白,可能伴随也可能不伴随双白蛋白血症。这两种情况在筛查单克隆丙种球蛋白病时常常被偶然发现。双白蛋白血症及相关变体有助于深入了解白蛋白的遗传多样性和功能作用,影响人类遗传学的临床诊断和研究。了解这些变体有助于区分良性病症与潜在疾病状态,指导适当的临床管理。在本病例回顾中,我们介绍了一例成年女性患者在直接抗球蛋白试验库姆斯阳性调查中意外发现的遗传性双白蛋白血症病例。本综述旨在突出双白蛋白血症的关键特征,这是一种临床医生应认识到的罕见病症。