在一名 DAT coombs 阳性的患者中意外发现遗传性双白蛋白血症:病例回顾

Elena Avgoustou , Dimitris Kounatidis , Natalia G. Vallianou , Irene Karampela , Theodora Stratigou , Maria Dalamaga
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引用次数: 0

摘要

双白蛋白血症是一种罕见的、典型的良性疾病,其特征是在血清蛋白电泳中出现双白蛋白带。这种病既可能因点突变而遗传,也可能因各种疾病(最常见的是糖尿病)而获得。双白蛋白尿,即尿液中出现双折白蛋白,可能伴随或不伴随双白蛋白血症。这两种病症往往是在筛查单克隆抗体病时偶然发现的。双白蛋白血症和相关变异为了解白蛋白的遗传多样性和功能作用提供了线索,对临床诊断和人类遗传学研究产生了影响。了解这些变异有助于区分良性疾病和潜在疾病,从而指导适当的临床治疗。在这篇以病例为基础的综述中,我们介绍了一例遗传性双白蛋白血症病例,该病例是在调查一名成年女性患者直接抗球蛋白试验库姆斯阳性时意外发现的。本综述旨在强调双白蛋白血症的主要特征,临床医生应认识到这种罕见疾病。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Incidental detection of hereditary bisalbuminemia in a patient with positive DAT coombs: A case-based review

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.

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来源期刊
Metabolism open
Metabolism open Agricultural and Biological Sciences (General), Endocrinology, Endocrinology, Diabetes and Metabolism
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