Study of Genetic Variants in COL4A3, COL4A4, and COL4A5 Genes and Their Effects on Alport Syndrome in Chinese Families and Patients with Kidney Blood in Urine

What this Trial Is About

Alport syndrome AS is a genetic disorder caused by mutations in the type IV collagen genes COL4A3, COL4A4, and COL4A5. This research aims to enroll families and patients with a history of renal hematuria from 27 hospitals to screen for these gene variants and understand how different gene types affect kidney disease development. The study focuses on the Han Chinese population and examines links between genotype and clinical features like hearing loss, proteinuria, kidney function decline, and kidney survival. Participants undergo next generation sequencing to detect variants in COL4A3, COL4A4, and COL4A5. This observational study includes up to 8,165 individuals with a family or personal history of renal hematuria. The study tracks genotype-phenotype relationships over time, focusing on the onset age of hearing loss, proteinuria severity, decline in estimated glomerular filtration rate eGFR, kidney survival, and progression to chronic kidney disease stage 5. Participants provide medical history and clinical data during the study, which may last up to 240 weeks. Researchers evaluate genetic findings alongside clinical outcomes to better understand AS progression. The study excludes individuals with other kidney diseases or incomplete data. The primary outcome is identifying COL4A3COL4A4COL4A5 gene variants, while secondary outcomes examine how these variants relate to disease characteristics and progression.

Genotype-Phenotype Correlations in Patients With Alport Syndrome