Characteristic electron-microscopic features of cryofibrinogen-associated glomerulonephritis: a case report
Characteristic electron-microscopic features of cryofibrinogen-associated glomerulonephritis: a case report
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DOI：
10.1186/s12882-020-1696-0
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发表时间：
2020-01-29
期刊：
影响因子：
2.3
通讯作者：
Haba, Reiji
中科院分区：
文献类型：
--
作者：
Ibuki, Emi;Shiraishi, Aiko;Haba, Reiji
冷冻纤维蛋白原血症是一种罕见的疾病，主要累及皮肤，偶尔累及肾脏。然而，有几个已发表的报告冷冻纤维蛋白原血症相关的肾脏病理。因此，我们报告一个病人与冷冻纤维蛋白原相关性肾小球肾炎。通过电子显微镜、激光显微切割和液相色谱-串联质谱法（LC-MS/MS）检查该患者的样本。病例介绍一位78岁的日本男性以肾功能下降、蛋白尿和肉眼血尿就诊。肾活检显示膜增生性模式，新月体形成和占主导地位的C3 c沉积，其中观察到具有独特组织的电子显微镜特征的内皮下沉积物。从血浆中提取的冷沉淀物的额外的超微结构分析显示肾小球内皮下沉积物的类似结构。LC-MS/MS确定纤维蛋白原α、β和γ链、纤连蛋白、细丝蛋白-A和C3增加。根据这些发现，肾小球病变被诊断为冷冻纤维蛋白原相关性肾小球肾炎。结论尽管冷冻纤维蛋白原相关性肾炎的报道较少，但我们相信通过LC-MS/MS和超微结构分析可以达到准确的诊断。
Background Cryofibrinogenemia is a rare disorder that mainly affects the skin and occasionally the kidney. However, there are few published reports of cryofibrinogenemia-associated renal pathology. We therefore report a patient with cryofibrinogen-associated glomerulonephritis. Samples from this patient were examined by electron microscopy, laser microdissection, and liquid chromatography-tandem mass spectrometry (LC-MS/MS). Case presentation A 78-year-old Japanese man presented with declining renal function, proteinuria, and gross hematuria. Kidney biopsy showed a membranoproliferative pattern with crescent formation and dominant C3c deposition in which subendothelial deposits with uniquely organized electron-microscopic features were observed. Additional ultrastructural analysis of cryoprecipitates extracted from plasma revealed similar structures of the glomerular subendothelial deposits. LC-MS/MS identified an increase in fibrinogen alpha, beta, and gamma chains, fibronectin, filamin-A, and C3. The glomerular lesions were diagnosed as cryofibrinogen-associated glomerulonephritis on the basis of these findings. Conclusions Although there are few reports of cryofibrinogen-associated glomerulonephritis, we believe that accurate diagnosis can be achieved by performing LC-MS/MS and ultrastructural analysis.