Bibliographic Details
| Title: |
A very rare case report with INF2 gene mutation related sporadic FSGS and response to treatment. |
| Alternate Title: |
Informe de un caso muy raro con GEFS esporádica relacionada con la mutación del gen INF2 y respuesta al tratamiento. |
| Authors: |
Kaynar, Kübra1 kkaynar@yahoo.com, Erbay, İbrahim2, Ertan, Hakan1, Güvercin, Beyhan1, Mungan, Sevdegül Aydın3, Cinkara, Neslihan4 |
| Source: |
Nefrologia. Apr2026, Vol. 46 Issue 4, p1-4. 4p. |
| Subjects: |
FOCAL segmental glomerulosclerosis, GENETIC mutation, RENAL biopsy, PROTEINURIA, NEPHROTIC syndrome, PREDNISONE |
| Abstract (English): |
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. [ABSTRACT FROM AUTHOR] |
| Abstract (Spanish): |
La glomeruloesclerosis focal y segmentaria (GEFS) se clasifica en tres formas: primaria, secundaria y genética. La GEFS genética se define como esporádica o familiar. Las mutaciones en el gen INF2 se encuentran principalmente en casos de GEFS genética familiar. Una paciente de 29 años, sin consanguinidad parental ni antecedentes familiares de enfermedad renal, con síndrome nefrótico con sedimentación urinaria inactiva y tasa de filtración glomerular normal, fue diagnosticada con GEFS confirmada mediante biopsia renal. Presentó remisión parcial bajo tratamiento con prednisona y ciclosporina. La paciente fue reevaluada debido a la presencia de una recaída de proteinuria durante el embarazo. El análisis genético reveló una variante heterocigótica sin sentido (NM_022489.4: c.653G>A; p.R218Q) en el gen INF2. Este informe de caso presenta el caso de una paciente joven con GEFS esporádica inducida por la mutación INF2. [ABSTRACT FROM AUTHOR] |
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| Database: |
MedicLatina |
