A Systematic Review of Pathogenic COL4A5 Variants and Proteinuria in Women and Girls With X-linked Alport Syndrome
Joel T. Gibson, Mikayla de Gooyer, Mary Huang, Judy Savige
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: 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: < 0.0001). Conclusion: Proteinuria correlates with a more severe genotype in women and girls with X-linked Alport syndrome and is an indicator of disease severity and likely progression.
Topics & Concepts
ProteinuriaMedicineAlport syndromeInternal medicineMissense mutationKidney diseaseGenotypePopulationEndocrinologyKidneyGlomerulonephritisGeneticsBiologyPhenotypeGeneEnvironmental healthCell Adhesion Molecules ResearchPlatelet Disorders and TreatmentsPeptidase Inhibition and Analysis