Abstract:

The continuous development of nextgeneration sequencing (NGS) technology has promoted new pathogenic gene mapping and redefinition of disease spectrum of hereditary kidney disease, for instance the clinical phenotype of collagen type Ⅳ related nephropathy has made new progress. In addition to Alport syndrome, thin basement membrane nephropathy and benign familial hematuria, the latest studies have been showed that COL4A3/COL4A4 are new pathogenic genes of familial focal segmental glomerulosclerosis (FSGS). Here, we review and discuss clinical phenotypic spectrum of collagen type IV chain (α3/α4/α5) (COL4A3/COL4A4/COL4A5, COL4A35)related nephropathy.

Key words: collagen Ⅳ, focal segmental glomerulosclerosis, alport syndrome, thin basement membrane nephropathy