Abstract: TH-PO0742
Genetic Study of a Cohort Presenting with Proliferative Glomerulonephritis
Session Information
- Glomerular Innovations: Artificial Intelligence, Multiomics, and Biomarkers
November 06, 2025 | Location: Exhibit Hall, Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Glomerular Diseases
- 1402 Glomerular Diseases: Clinical, Outcomes, and Therapeutics
Authors
- Bale, Charan Bhadrappa, Dr. D. Y. Patil Medical College, Hospital & Research centre, Pune, Maharashtra, India
- Sajgure, Atul, Dr. D. Y. Patil Medical College, Hospital & Research centre, Pune, Maharashtra, India
Group or Team Name
- Department of Nephrology.
Background
Nephritic syndrome is characterized by the acute onset of hematuria, RBC casts, varying degrees of proteinuria, azotemia, hypertension, and oliguria, reflecting glomerular inflammation and injury [1]. Complement level assessment serves as a valuable tool in differentiating etiologies of nephritic syndrome, mainly Thrombotic Microangiopathy (TMA). Genetic mutations are implicated in C3 glomerulopathy.
Methods
A prospective, descriptive study evaluated for phenotypical, histopathological & genotypical spectrum of nephritic syndrome and diagnostic role genetic analysis. Kidney biopsy was processed for LM, IF. Genetic analysis by MLPA method was carried out.
Results
Ten patients presented with nephritic syndrome, out of which two were post-transplant. Seven (70%) males, six (60%) had pedal oedema, five (50%) had dyspnea, one each with gross hematuria (10%), fever (10%) and rash (10%). Four (40%) had oliguria, three (30%) had anuria and rest three had urine output >800ml/day. eGFR by CKD- EPI was less than 15ml/min/1.73m2 in eight (80%) patients, one had eGFR of 21ml/min/1.73m2 and one presented with 120ml/min/1.73m2. C3 levels were low in four (40%) (Ref. range 80-120 mg/dL), but C4 levels were normal in all patients (Ref. range 10-40 mg/dL).
Out of 10 kidney biopsies, seven (70%) had mesangial proliferation, three (30%) revealed changes of TMA. Immunofluorescence revealed ‘3+’ C3 staining in three (30%), ‘2+’ C3 staining in one (10%), ‘1+’ C3 staining in two (20%) and ‘3+’ IgG in one patient. In two graft biopsy, LM exhibited no active glomerular lesions & IF was negative, but showed ct1, ci1 as per Banff classification. Genetic abnormalities were evident in seven (70%). Four (40%) patients had heterozygous deletions, out of which three patients with CFHR1&3 heterozygous deletions, one with CFHR1,3&5 heterozygous deletions. Homozygous CFHR 1&3 deletions were observed in three (30%) patients, rest three had no mutations.
Conclusion
Genetic analysis (70%) was more sensitive in diagnosing disease spectrum of proliferative GN, compared to serological complement levels (40%) and histopathological finding (30%) TMA & (40%) C3 deposit. Post transplant patients required renal replacement therapy and had heterozygous deletion. Hence, genetic analysis may help in predicting graft survival, also prognosticating risk for renal transplant recepient and donor selection.