SP023MUTATIONS IN INFANTIL NEPHROTIC SYNDROME AND WORSE PROGNOSTIC RESULTS OF E117K POLYMORPHISM IN NPHS1
Bildiriler > Özet Bildiri
Yazarlar: Ebru Yılmaz, Nida Dinçel, I˙pek Kaplan Bulut, Şükriye Hacıkara, Afig Berdeli, Sevgi Mir
Nephrology Dialysis Transplantation, , , Uluslararası, Özet Bildiri, Wos, cilt 30, ss iii388-iii388
Özet
Introduction and Aims: Congenital nephrotic syndrome (CNS) is present at birth or with in the first three months of life. Later onset, between three months and one year of age, is called infantile nephrotic syndrome (INS).Although, mutations in NPHS1 encoding nephrin are responsible for majority of congenital NS, nephrin mutations have also been found in infantile and childhood forms of steroid resistant nephritic syndrome (SRNS) There is a genetic heterogeneity of CNS and the absence of clear genotype phenotype correlations. In this study we aimed to evaluate children with infantile NS and show mutational analysis of NPHS1 and NPHS2 besides phenotypic features. Methods: We have evaluated clinical data, mutation analysis, histology, treatment modalities and outcome of 48 children (18 girls)infantile NS. Results: The mean age at the onset of nephrotic syndrome was 8.7 ± 2.3 months and the mean follow up was 8.3 years. Parental consanguinity was found in 12.5% of the families. Seven familial and 41 sporadic cases were found. Kidney biopsy was performed in 45 out of 48 patients, showed focal segmental glomerulosclerosis in 29 (29/45; 65%), IgM nephropathy (IgMN) in 6 (6/45; 13%) and minimal change disease (MCD) in 10 patients (10/45; 22%). Group 1 included patients having only mutations of NPHS1 in 5 cases (10, 4%) and group 2 included patients having only mutations of NPHS2 in 13 (27%). Thirthy cases (%62.5) had neither NPHS1 nor NPHS2 mutation placed in group 3. We found that Infantile NS with podocin mutation have bad prognosis according to exonal distribution.