Co-existence of Alport syndrome and C3 glomerulonephritis in a proband with family history.

ABSTRACT:

Background

Alport syndrome and C3 glomerulonephritis (C3GN) are rare kidney diseases, frequently responsible for familial haematuria, proteinuria, and renal impairment. With the rapid development of molecular genetic testing, Alport syndrome causes have been restricted mostly to variants in the COL4A5 or COL4A3/COL4A4 genes. Moreover, a broad range of genetic contributors in the complement and complement-regulating proteins are definitely implicated in the pathogenesis of C3GN.

Methods

We sought a family with persistent microscopic haematuria associated with renal failure. Clinicopathologic and follow-up data were obtained, and molecular genetic testing was used to screen for pathogenic variants.

Results

We describe a three-generation family with Alport syndrome showi

SUBMITTER: Ding Y 

PROVIDER: S-EPMC8265006 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature