Fibrillary Glomerulonephritis Diagnosis Is Enhanced by DNAJB9: Three Cases with Different Clinical, Anatomopathologic Features and Outcomes
<b>Background:</b> 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 diagno...
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MDPI AG
2025-05-01
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| author | José C. De La Flor Marco Dominguez Davalos Tania Linares Grávalos Marina Alonso-Riaño Francisco Díaz Celia Rodríguez Tudero Rocío Zamora González-Mariño Michael Cieza Terrones Jesús Hernández Vaquero |
| author_facet | José C. De La Flor Marco Dominguez Davalos Tania Linares Grávalos Marina Alonso-Riaño Francisco Díaz Celia Rodríguez Tudero Rocío Zamora González-Mariño Michael Cieza Terrones Jesús Hernández Vaquero |
| author_sort | José C. De La Flor |
| collection | DOAJ |
| description | <b>Background:</b> 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. <b>Case Reports:</b> 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. <b>Discussion:</b> 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. <b>Conclusions</b>: 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. |
| format | Article |
| id | doaj-art-2ef411253b904cf28939e6f5df2dad8e |
| institution | DOAJ |
| issn | 1873-149X |
| language | English |
| publishDate | 2025-05-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Pathophysiology |
| spelling | doaj-art-2ef411253b904cf28939e6f5df2dad8e2025-08-20T03:16:24ZengMDPI AGPathophysiology1873-149X2025-05-013222210.3390/pathophysiology32020022Fibrillary Glomerulonephritis Diagnosis Is Enhanced by DNAJB9: Three Cases with Different Clinical, Anatomopathologic Features and OutcomesJosé C. De La Flor0Marco Dominguez Davalos1Tania Linares Grávalos2Marina Alonso-Riaño3Francisco Díaz4Celia Rodríguez Tudero5Rocío Zamora González-Mariño6Michael Cieza Terrones7Jesús Hernández Vaquero8Department of Nephrology, Hospital Central Defense Gomez Ulla, 28047 Madrid, SpainDepartment of Nephrology, Hospital Cayetano Heredia, Lima 15002, PeruDepartment of Nephrology, Hospital Central Defense Gomez Ulla, 28047 Madrid, SpainDepartment of Anatomic Pathology, Hospital 12 de Octubre, 28041 Madrid, SpainDepartment of Anatomic Pathology, Hospital Gregorio Marañón, 28008 Madrid, SpainDepartment of Nephrology, Hospital Universitario de Salamanca, 37007 Salamanca, SpainDepartment of Nephrology, Hospital Universitario General Villalba, 28400 Madrid, SpainDepartment of Engineering, Faculty of Science and Engineering, Peruana Cayetano Heredia University, Lima 15002, PeruDepartment of Nephrology, Hospital Central Defense Gomez Ulla, 28047 Madrid, Spain<b>Background:</b> 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. <b>Case Reports:</b> 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. <b>Discussion:</b> 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. <b>Conclusions</b>: 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.https://www.mdpi.com/1873-149X/32/2/22fibrillary glomerulonephritisrapidly progressive glomerulonephritisDNABJ9 |
| spellingShingle | José C. De La Flor Marco Dominguez Davalos Tania Linares Grávalos Marina Alonso-Riaño Francisco Díaz Celia Rodríguez Tudero Rocío Zamora González-Mariño Michael Cieza Terrones Jesús Hernández Vaquero Fibrillary Glomerulonephritis Diagnosis Is Enhanced by DNAJB9: Three Cases with Different Clinical, Anatomopathologic Features and Outcomes Pathophysiology fibrillary glomerulonephritis rapidly progressive glomerulonephritis DNABJ9 |
| title | Fibrillary Glomerulonephritis Diagnosis Is Enhanced by DNAJB9: Three Cases with Different Clinical, Anatomopathologic Features and Outcomes |
| title_full | Fibrillary Glomerulonephritis Diagnosis Is Enhanced by DNAJB9: Three Cases with Different Clinical, Anatomopathologic Features and Outcomes |
| title_fullStr | Fibrillary Glomerulonephritis Diagnosis Is Enhanced by DNAJB9: Three Cases with Different Clinical, Anatomopathologic Features and Outcomes |
| title_full_unstemmed | Fibrillary Glomerulonephritis Diagnosis Is Enhanced by DNAJB9: Three Cases with Different Clinical, Anatomopathologic Features and Outcomes |
| title_short | Fibrillary Glomerulonephritis Diagnosis Is Enhanced by DNAJB9: Three Cases with Different Clinical, Anatomopathologic Features and Outcomes |
| title_sort | fibrillary glomerulonephritis diagnosis is enhanced by dnajb9 three cases with different clinical anatomopathologic features and outcomes |
| topic | fibrillary glomerulonephritis rapidly progressive glomerulonephritis DNABJ9 |
| url | https://www.mdpi.com/1873-149X/32/2/22 |
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