TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis

摘要

Background. Mutations in the TRPC6 gene have been reported in six families with adult-onset (17–57 years) autosomal dominant focal segmental glomerulosclerosis (FSGS). Electrophysiology studies confirmed augmented calcium influx only in three of these six TRPC6 mutations. To date, the role of TRPC6 in childhood and adulthood non-familial forms is unknown.