De La Flor José C, Dominguez Davalos Marco, Linares Grávalos Tania, Alonso-Riaño Marina, Díaz Francisco, Rodríguez Tudero Celia, Zamora González-Mariño Rocío, Cieza Terrones Michael, Hernández Vaquero Jesús
Department of Nephrology, Hospital Central Defense Gomez Ulla, 28047 Madrid, Spain.
Health Sciences Doctoral Program, Faculty of Medicine, Alcala University, 28805 Madrid, Spain.
Pathophysiology. 2025 May 25;32(2):22. doi: 10.3390/pathophysiology32020022.
Fibrillary glomerulonephritis (FGN) is a rare and poorly understood kidney disease characterized by the deposition of non-amyloid fibrils in the glomeruli. Its clinical heterogeneity and high rate of progression to end-stage renal disease (ESRD) pose significant diagnostic and therapeutic challenges. This case series aims to enhance awareness of FGN and emphasizes the need for further research to improve patient outcomes. We reviewed the clinical, histopathological, and therapeutic data of three patients with FGN diagnosed by kidney biopsy. The cases included variations in clinical presentation from nephrotic syndrome to rapidly progressive glomerulonephritis (RPGN). Diagnostic methods incorporated light microscopy, immunofluorescence, and electron microscopy, with the integration of DnaJ homolog subfamily B member 9 (DNAJB9) staining for confirmation. Patient 1 showed a more favorable response to rituximab, achieving complete remission (CR) at 6 months and maintaining CR after 3 years. Patient 2 showed only partial remission after 2 years following treatment with rituximab. Patient 3 presented with RPGN and rapidly progressed to ESRD despite aggressive immunosuppressive therapy. DNAJB9 has emerged as both a specific and sensitive biomarker in patients with FGN and has facilitated accurate differentiation from other glomerulopathies. This series underscores the variability in clinical outcomes and responses to therapy as well as the importance of early and accurate diagnosis. : FGN remains a diagnostic and therapeutic challenge due to its rarity and heterogeneity. Advances in biomarkers like DNAJB9 have improved diagnostic accuracy, distinguishing FGN from similar conditions such as immunotactoid glomerulopathy. Further research into pathophysiological mechanisms and targeted therapies is essential to optimize management and outcomes for affected patients.
纤维性肾小球肾炎（FGN）是一种罕见且了解甚少的肾脏疾病，其特征是在肾小球中沉积非淀粉样纤维。其临床异质性以及进展为终末期肾病（ESRD）的高发生率带来了重大的诊断和治疗挑战。本病例系列旨在提高对FGN的认识，并强调需要进一步研究以改善患者预后。我们回顾了3例经肾活检诊断为FGN患者的临床、组织病理学和治疗数据。这些病例的临床表现从肾病综合征到快速进展性肾小球肾炎（RPGN）各不相同。诊断方法包括光学显微镜检查、免疫荧光和电子显微镜检查，并结合DnaJ同源亚家族B成员9（DNAJB9）染色进行确诊。患者1对利妥昔单抗反应较好，6个月时达到完全缓解（CR），3年后维持CR状态。患者2在接受利妥昔单抗治疗2年后仅部分缓解。患者3表现为RPGN，尽管接受了积极的免疫抑制治疗仍迅速进展为ESRD。DNAJB9已成为FGN患者的一种特异性和敏感性生物标志物，并有助于与其他肾小球病进行准确鉴别。本系列强调了临床结局和治疗反应的变异性以及早期准确诊断的重要性。由于FGN的罕见性和异质性，它仍然是一个诊断和治疗难题。像DNAJB9这样的生物标志物的进展提高了诊断准确性，将FGN与免疫触须样肾小球病等类似疾病区分开来。对病理生理机制和靶向治疗的进一步研究对于优化受影响患者的管理和结局至关重要。
