Deciphering the pathogenesis of the COL4-related hematuric nephritis: A genotype/phenotype study.

ABSTRACT:

Background

Alport syndrome (ATS) is a hereditary progressive hematuric nephropathy associated with sensorineural deafness and ocular abnormalities, which is caused by mutations in the COL4A5 gene (X-linked ATS) and in two autosomal genes, COL4A4 and COL4A3, responsible of both recessive ATS and, when present in heterozygosity, of a spectrum of phenotypes ranging from isolated hematuria to frank renal disease.

Methods

Retrospective analysis of the clinical and genetic features of 76 patients from 34 unrelated ATS families (11 with mutations in COL4A5, 11 in COL4A3, and 12 in COL4A4) and genotype/phenotype correlation for the COL4A3/COL4A4 heterozygotes (34 patients from 14 families).

Results

Eight (24%) of the 34 heterozygous COL4A3 and COL4A4 carriers developed renal

SUBMITTER: Uliana V 

PROVIDER: S-EPMC8077073 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature