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Abstract: PO1321

Phenotypic-Genotypic Relationship of Focal and Segmental Glomerulosclerosis (FSGS)

Session Information

Category: Genetic Diseases of the Kidneys

  • 1002 Genetic Diseases of the Kidneys: Non-Cystic

Authors

  • Tato, Ana M., Hospital Universitario Fundacion Alcorcon, Alcorcon, Madrid, Spain
  • Carrera cachaza, Noa, Instituto de Investigacion Sanitaria de Santiago de Compostela, Santiago de Compostela, Spain
  • Garcia-Murias, Maria, Instituto de Investigacion Sanitaria de Santiago de Compostela, Santiago de Compostela, Spain
  • Shabaka, Amir, Hospital Universitario Fundacion Alcorcon, Alcorcon, Madrid, Spain
  • Cases Corona, Clara Maria, Hospital Universitario Fundacion Alcorcon, Alcorcon, Madrid, Spain
  • Fernandez Juarez, Gema, Hospital Universitario Fundacion Alcorcon, Alcorcon, Madrid, Spain
  • Garcia-Gonzalez, Miguel A., Instituto de Investigacion Sanitaria de Santiago de Compostela, Santiago de Compostela, Spain
Background

FSGS can be of primary, secondary or genetic origin. The objective of our work is to establish in which patients with a histological diagnosis of FSGS a genetic etiology should be suspected

Methods

The study included adult patients with a histological diagnosis of FSGS and with either steroid resistant nephrotic syndrome (SRNS) or proteinuria without hypoalbuminemia in which secondary FSGS was ruled out. The presence of familial kidney disease was not an inclusion criterion. The genetic study was carried out by massive sequencing techniques (NGS) of the coding and flanking regions of the candidate genes associated with glomerular diseases.

Results

Out of 108 samples received, 80 patients met the inclusion criteria. We detected FSGS-related pathogenic genetic variants in 31 (39%) patients, finding no difference between those whose indication was steroid resistance (32 %) or proteinuria with normal albumin (58%). We found 20 pathogenic variants of collagen IV in 17 (55%) patients. NPHS2 mutations were discovered in 7 (23%) patients. The remaining cases had variants affecting INF2, OCRL, HNF1B, WT2. All (3) black patients had high-risk APOL1 alleles. There were no differences between genetic and non-genetic causes in age, proteinuria, GFR, serum albumin, BMI, hypertension, diabetes, or family history. Hematuria was more prevalent among patients with genetic causes.

Conclusion

Genetic testing should be considered in FSGS patients in which a secondary cause has been excluded, to determine the patient's prognosis, treatment and perform familial screening.

Funding

  • Private Foundation Support