Ana María Tato, Noa Carrera, Maria García-Murias, Amir Shabaka, Ana Ávila, María Teresa Mora Mora, Cristina Rabasco, Karina Soto, Francisco Jose de la Prada Alvarez, Loreto Fernández-Lorente, Antolina Rodríguez-Moreno, Ana Huerta, Carmen Mon, Clara García-Carro, Fayna González Cabrera, Juan Antonio Martín Navarro, Ana Romera, Eduardo Gutiérrez, Javier Villacorta, Alberto de Lorenzo, Beatriz Avilés, Miguel Angel Garca-González, Gema Fernández-Juárez
BACKGROUND: Genetic causes are increasingly recognized in patients with focal segmental glomerulosclerosis (FSGS), but it remains unclear which patients should undergo genetic study. Our objective was to determine the frequency and distribution of genetic variants in steroid-resistant nephrotic syndrome FSGS (SRNS-FSGS) and in FSGS of undetermined cause (FSGS-UC). METHODS: We performed targeted exome sequencing of 84 genes associated with glomerulopathy in patients with adult-onset SRNS-FSGS or FSGS-UC after ruling out secondary causes...
November 2023: Clinical Kidney Journal