A Systematic Review of Pathogenic COL4A5 Variants and Proteinuria in Women and Girls With X-linked Alport Syndrome.

ABSTRACT:

Introduction

Women and girls with X-linked Alport syndrome have a risk of disease progression that is difficult to predict. This systematic review examined whether proteinuria correlated with genotype and disease severity in this population.

Methods

PubMed and Scopus were searched for manuscripts from the past 20 years with "COL4A5," "female," "proteinuria" and related terms. Genotypes and clinical data for women and girls with pathogenic heterozygous COL4A5 variants were extracted. Features were then compared between females with proteinuria or without proteinuria; and genotype-phenotype correlations for age at proteinuria and kidney failure determined.

Results

Three-hundred sixty-six women and girls with COL4A5 variants and a median age of 29 ye

SUBMITTER: Gibson JT 

PROVIDER: S-EPMC9751687 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature