Picken Maria M, Linke Reinhold P
Department of Pathology, Loyola University Medical Center, Maywood, IL 60153, USA.
J Am Soc Nephrol. 2009 Aug;20(8):1681-5. doi: 10.1681/ASN.2008070813. Epub 2008 Dec 17.
We identified amyloid derived from a mutant fibrinogen A alpha chain associated with one of the hereditary amyloidoses by kidney biopsy. The recognition of molecular and etiologic diversity among amyloidoses has revolutionized the management of systemic amyloidosis and necessitates precision in amyloid typing. Pitfalls and recommendations for the differential diagnosis of renal amyloid and current standards of amyloid typing are briefly discussed. Diagnosis of the amyloidosis type must be based on identification of the chemical composition of the amyloid protein in deposits and not on clinical suspicion, laboratory tests, or genetic testing. A clinical correlation is required to support but not make a diagnosis of amyloid type. If a hereditary form is detected by amyloid protein typing, then molecular studies are indicated. Conversely, in cases in which DNA sequence indicates a mutant amyloid precursor protein, protein analysis of the deposits must provide the definitive evidence. Negative or inconclusive results must be investigated further by a reference laboratory with the capability of applying more sophisticated methods.
我们通过肾活检鉴定出一种源自与遗传性淀粉样变性之一相关的突变纤维蛋白原Aα链的淀粉样蛋白。认识到淀粉样变性之间分子和病因的多样性已经彻底改变了系统性淀粉样变性的管理方式，并且在淀粉样蛋白分型中需要精确性。本文简要讨论了肾淀粉样变性鉴别诊断的陷阱和建议以及当前的淀粉样蛋白分型标准。淀粉样变性类型的诊断必须基于对沉积物中淀粉样蛋白化学成分的鉴定，而不是基于临床怀疑、实验室检查或基因检测。需要临床相关性来支持但不能做出淀粉样蛋白类型的诊断。如果通过淀粉样蛋白分型检测到遗传性形式，则需要进行分子研究。相反，在DNA序列表明存在突变淀粉样前体蛋白的情况下，沉积物的蛋白质分析必须提供确凿证据。阴性或不确定的结果必须由具备应用更复杂方法能力的参考实验室进一步调查。
