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Kidney Week

Abstract: FR-PO801

Features of Glomerulopathy with Fibronectin Deposits

Session Information

Category: Genetic Diseases of the Kidneys

  • 1002 Genetic Diseases of the Kidneys: Non-Cystic

Authors

  • Lee, Jiwon M., Chungnam National University, Seoul, Korea (the Republic of)
  • Ahn, Yo Han, Seoul National University Bundang Hospital, Seongnam, Korea (the Republic of)
  • Kang, Hee Gyung, Seoul National University Children's Hospital, Seoul, Korea (the Republic of)
  • Choi, Dae Eun, Chungnam National University, Seoul, Korea (the Republic of)
  • Lim, Beom Jin, Yonsei University College of Medicine, Seoul, Korea (the Republic of)
  • Park, Jung Tak, Yonsei University Health System, Seoul, Korea (the Republic of)
Background

Glomerulopathy with fibronectin deposits (GFND; OMIM: 601894) is a rare inherited kidney disorder characterized by massive fibronectin deposits, leading to end-stage renal disease (ESRD). Differential diagnosis of GFND from other immunotactoid glomerulopathy is important in treatment. We systematically reviewed and analyzed clinical features and genotypes of patients with GFND.

Methods

Electronic databases were searched using related terms (till May 30th, 2019). This report adhered to the Preferred Reporting Items for Systematic Reviews and Meta-analyses guidelines.

Results

From 1633 articles searched, there were 23 eligible studies with 86 patients with GFND from 44 families. Female patients were 40% (34/86) and most (70/83, 84%) patients had family history. 33 patients (38%) had hematuria and 38(47%) had nephrotic proteinuria. Median age at onset was 14.5 years for hematuria and 24 for proteinuria. Half of the patients had hypertension (18/35, 51%). ESRD was reported in 22 out of 68 patients (26%) at 34 median years. Of the 50 patients available for pathology reports, most patients showed negative immunofluorescence stains and fibrillary deposit in the electon-microscopy with the fibrils sized 9-14 nm in diameter. 42 patients underwent genetic tests for FN1 and 3(8%) had no mutation. Of the 39 with FN1 mutation, and 35 (35/39, 89%) had a missense mutation, 3 (8%) had deletion, and 1 had an intronic mutation. Mostly affected was the heparin-binding site where 92% (32/39) of the mutations occurred. c.2918A>G was the most commonly reported mutation. There was no genotype-phenotype correlation in this study.

Conclusion

GFND may proceed to ESRD at third decade of life. Hypertension and nephrotic syndrome are often accompanied. Some patients with GFND may present without family history and may be negative for FN1 mutation.

Funding

  • Government Support - Non-U.S.