Rapidly progressive pediatric fibronectin glomerulopathy driven by a novel FN1 mutation (p.Thr1917del): implications for early diagnosis and recognition of systemic involvement
Xiaobin Chen, Jun Huang, Yi Chen, Yunfan Zhang, Jinfeng Lin, Zengfeng Weng, Jingjing Liu, Guizhi Xia, Chengfeng Wang, Ai Feng, Yuxian Tang, Hannan Zhang, Xiaojing Nie · 2026
Read Rapidly progressive pediatric fibronectin glomerulopathy driven by a novel FN1 mutation (p.Thr1917del): implications for early diagnosis and recognition of systemic involvement by Xiaobin Chen, Jun Huang, Yi Chen, Yunfan Zhang, Jinfeng Lin, Zengfeng Weng, Jingjing Liu, Guizhi Xia, Chengfeng Wang, Ai Feng, Yuxian Tang, Hannan Zhang, Xiaojing Nie (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13481764.txt.
Description
Xiaobin Chen, Jun Huang, and their co-authors report a child with a rare kidney disease driven by a new gene variant. Their 2026 study covers fibronectin glomerulopathy, in which a blood protein builds up in the kidney filters. The patient was a nine year old girl whose biopsy and gene tests gave the diagnosis in 2017.
She had heavy protein in the urine, blood in the urine, high blood pressure, and steady kidney decline, reaching kidney failure ten years after onset. Her variant removed one building block from the fibronectin protein and had not been reported before. Staining of stomach tissue suggested the disease reaches beyond the kidney. A review of confirmed cases in Chinese and English sources compared gene variants with symptoms.
Catalog record
| CREATOR | Xiaobin Chen, Jun Huang, Yi Chen, Yunfan Zhang, Jinfeng Lin, Zengfeng Weng, Jingjing Liu, Guizhi Xia, Chengfeng Wang, Ai Feng, Yuxian Tang, Hannan Zhang, Xiaojing Nie |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 52 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |