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Abstract: TH-PO1004

The Study of the FUT2 Gene Carrying a Nonsense Mutation in IgA Nephropathy

Session Information

Category: Glomerular Diseases

  • 1203 Glomerular Diseases: Clinical, Outcomes, and Trials

Author

  • Jia, Jieshuang, Shanghai General Hospital, Shanghai, China
Background

The pathogenesis of IgA nephropathy is related to the dysbacteriosis, but FUT2 gene carrying nonsense mutation plays a role in the intestinal flora disorder.

Methods

To verify that FUT2 gene with nonsense mutation is associated with IgA nephropathy. We collected 104 cases of physical examination and 56 cases of IgA nephropathy diagnosed by renal biopsy from June 2017 to December 2018. We extracted genomic DNA to detect FUT2 gene, test serum biochemical markers, intestinal barrier function indicators (diamine oxidase DAO and D-lactic acid DL), and collected the blood pressure(BP), 24 hour urinary protein and renal pathology .

Results

1.We found that 5 patients (8.9%) of IgA nephropathy carry a nonsense mutation on FUT2 gene and there is no nonsense mutation in 104 healthy people.2.The levels of the BP 146±11.43mmHg, serum creatinine(Cr)138.34±23.54µmol/L,serum uric acid(UA)424.39±116.45µmol/L,24 hour urinary protein2.69±1.8g,DAO18.75±4.96U/L and DL 40.14±10.25mg/L are significantly higher in patients carrying a nonsense mutation than those without mutation group which is respectively 111±12.43mmHg,72.56±25.72µmol/L,375.96±102.01µmol/L,1.50±0.73g,4.25±5.59U/L and 15.78±5.67 mg/L(P<0.01).3.The number of eGFR 75.71±11.18ml/min/1.73m2 in the mutation group is obviously decreased than that in the non-mutation group 98.72±12.91 (P<0.01).4.The melanocyte proliferation, glomerular sclerosis, and interstitial fibrosis were significantly observed in the mutation group, the score was 3.6±0.54. In the non-mutation group, the score was 1.6±0.65 (P<0.05).

Conclusion

8.9% of patients with IgA nephropathy have nonsense mutations on FUT2 gene. Compared with the non-mutation group, the BP, serum Cr,UA,24 hour urinary protein,DAO and DL are significantly higher in the mutation group,but eGFR is obviously decreased. Renal pathology suggests that the score of mesangial cell proliferation, glomerular sclerosis and interstitial fibrosis are increased in the mutation group.Studies of IgA nephropathy have shown that higher serum Cr, 24 hour urinary protein, BP and lower eGFR are positively correlated with disease progression and that the higher score of the renal pathology suggest a poor prognosis. Finally we infer that nonsense mutations on FUT2 gene can affect the intestinal barrier function and accelerate the progression of IgA nephropathy, and its mechanism still needs further study.