Fibrillary Glomerulonephritis and Apolipoprotein A-IV Amyloidosis: A Rare Dual Pathology Diagnosed by Mass Spectrometry and DNAJB9 Immunohistochemistry

纤维性肾小球肾炎合并载脂蛋白A-IV淀粉样变性:一种罕见的双重病理,可通过质谱和DNAJB9免疫组化进行诊断。

阅读:1

Abstract

Fibrillary glomerulonephritis is a rare cause of proteinuric kidney disease characterized by Congo red-negative fibrillary deposits and typically shows DNAJB9 positivity on immunohistochemistry. Amyloidosis is defined by Congo red positivity and can be typed by laser microdissection-tandem mass spectrometry when routine studies are inconclusive. We report the case of a 64-year-old man with proteinuria and declining kidney function whose kidney biopsy showed DNAJB9-positive fibrillary glomerulonephritis in glomeruli, but Congo red-positive deposits confined to the medulla were DNAJB9 negative. Laser microdissection-tandem mass spectrometry of the medullary deposits identified apolipoprotein A-IV amyloidosis, establishing concurrent fibrillary glomerulonephritis and apolipoprotein A-IV amyloidosis in the same biopsy. Apolipoprotein A-IV amyloidosis is often medullary predominant and, in rare hereditary forms related to autosomal dominant APOA4 variants, may have implications for family members. Although apolipoprotein A-IV amyloidosis has been reported in cardiac amyloidosis, transthoracic echocardiography and cardiac magnetic resonance imaging showed no evidence of cardiac amyloid involvement in this patient. This case highlights that discordant staining patterns with DNAJB9-positive fibrillary glomerulonephritis alongside Congo red positivity in DNAJB9-negative areas should prompt consideration of dual pathology and targeted mass spectrometry to accurately type deposits and guide management.

特别声明

1、本页面内容包含部分的内容是基于公开信息的合理引用;引用内容仅为补充信息,不代表本站立场。

2、若认为本页面引用内容涉及侵权,请及时与本站联系,我们将第一时间处理。

3、其他媒体/个人如需使用本页面原创内容,需注明“来源:[生知库]”并获得授权;使用引用内容的,需自行联系原作者获得许可。

4、投稿及合作请联系:info@biocloudy.com。