A very rare case report with INF2 gene mutation related sporadic FSGS and response to treatment Informe de un caso muy raro con GEFS esporádica relacionada con la mutación del gen INF2 y respuesta al tratamiento

KAYNAR R. K., Erbay İ., Ertan H., GÜVERCİN B., AYDIN MUNGAN S., Cinkara N.

Nefrologia, cilt.46, sa.4, 2026 (Scopus) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 46 Sayı: 4
  • Basım Tarihi: 2026
  • Doi Numarası: 10.1016/j.nefroe.2026.501466
  • Dergi Adı: Nefrologia
  • Derginin Tarandığı İndeksler: Scopus
  • Anahtar Kelimeler: Focal segmental, Glomerulosclerosis, Human, INF2 protein, Mutation
  • Karadeniz Teknik Üniversitesi Adresli: Evet

Özet

Focal segmental glomerulosclerosis (FSGS) is classified into three forms: primary, secondary, and genetic FSGS. Genetic FSGS is defined as sporadic or familial types. The mutations in the gene inverted formin (INF)2 are mostly encountered in familial genetic FSGS cases. A 29-year-old female patient without any parental consanguinity and family history of kidney disease, who had nephrotic syndrome with inactive urine sedim and normal glomerular filtration rate was diagnosed as kidney biopsy-proven FSGS. She had partial remission under treatment of prednisone and cyclosporine. The patient was re-evaluated due to presence of relapse in proteinuria during her pregnancy. Genetic analysis revealed a heterozygous missense variant (NM_022489.4:c.653G>A; p.R218Q) in the INF2 gene. This case report presents a young female patient with sporadic FSGS induced by INF2 mutation.