TRPC6 gene variants in Turkish children with steroid-resistant nephrotic syndrome
Makaleler > Tam Makale · 2011
Yazarlar: Sevgi Mir, Onder YAVASCAN, Afig BERDELİ, Betul SÖZERİ
NEPHROLOGY DIALYSIS TRANSPLANTATION, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2011, cilt 27, ss 205-209
DOI: 10.1093/ndt/gfr202
Özet
Background. In steroid-resistant nephrotic syndrome (SRNS), a considerable number of patient progress to end-stage renal disease (ESRD), despite aggressive therapy. The latest advance in familial focal segmental glomerulosclerosis (FSGS) has been the discovery of a mutant form of canonical transient receptor potential channel 6 (TRPC6) leading to FSGS through unclear mechanisms. The aim of this study is to screen for TRPC6 mutations in familial and sporadic SRNS patients.