Introduction: Systemic amyloidosis is a diverse group of diseases that, although rare, pose a serious health issue and can lead to organ failure and death. Amyloid typing is essential in determining the causative protein and initiating proper treatment. Mass spectrometry-based proteomics is currently the most sensitive and accurate means of typing amyloid.

Areas covered: Amyloidosis can be systemic or localized, acquired or hereditary, and can affect any organ or tissue. Diagnosis requires biopsy, histological analysis, and typing of the causative protein to determine treatment. The kidneys are the most commonly affected organ in systemic disease. Fibrinogen alpha chain amyloidosis (AFib) is the most prevalent form of hereditary renal amyloidosis. Select mutations in the fibrinogen Aα (FGA) gene lead to AFib.

Expert commentary: Mass spectrometry is currently the most specific and sensitive method for amyloid typing. Identification of the mutated fibrinogen alpha chain can be difficult in the case of ‘private’ frameshift mutations, which dramatically change the sequences of the expressed fibrinogen alpha chain. A combination of expert pathologist review, mass spectrometry, and gene sequencing can allow for confident diagnosis and determination of the fibrinogen alpha chain mutated sequence.

简介：系统性淀粉样变性是一组不同的疾病，虽然罕见，但会造成严重的健康问题，并可能导致器官衰竭和死亡。淀粉样蛋白分型对于确定致病蛋白和开始适当的治疗至关重要。基于质谱的蛋白质组学是目前最灵敏、最准确的淀粉样蛋白分型方法。

涵盖领域：淀粉样变性可以是系统性的或局部性的、获得性的或遗传性的，并且可以影响任何器官或组织。诊断需要活检、组织学分析和致病蛋白分型以确定治疗方法。肾脏是全身性疾病中最常受影响的器官。纤维蛋白原α链淀粉样变性（AFib）是遗传性肾淀粉样变性最常见的形式。纤维蛋白原 Aα (FGA) 基因的选择突变会导致 AFib。

专家点评：质谱法是目前淀粉样蛋白分型最特异、最灵敏的方法。在“私人”移码突变的情况下，鉴定突变的纤维蛋白原α链可能很困难，这种突变极大地改变了表达的纤维蛋白原α链的序列。病理学家专家评审、质谱分析和基因测序相结合，可以对纤维蛋白原 α 链突变序列进行可靠的诊断和确定。