Teresa Bada-Bosch, Angel M Sevillano, María Teresa Sánchez-Calvin, Carmen Palma-Milla, Ignacio Alba de Cáceres, Francisco Díaz-Crespo, Hernando Trujillo, Marina Alonso, Clara Cases-Corona, Amir Shabaka, Juan Francisco Quesada-Espinosa, José Miguel Lezana Rosales, Eduardo Gutiérrez, Gema Fernández-Juárez, Fernando Caravaca-Fontán, Manuel Praga
BACKGROUND AND HYPOTHESIS: Autosomal Dominant Alport Syndrome (ADAS), also known as Thin Basement Membrane Disease (TBMD), is caused by pathogenic variants in COL4A3 and COL4A4 genes. A cystic phenotype has been described in some patients with TBMD, but no genetic studies were performed. We conducted a genetic and radiologic investigation in a cohort of ADAS patients to analyze the prevalence of multicystic kidney disease (MKD) and its association with Chronic Kidney Disease (CKD). METHODS: Retrospective single-center cohort study...
January 4, 2024: Nephrology, Dialysis, Transplantation