Alport syndrome affects up to 60,000 people in the United States. The proposed
reclassification of thin basement membrane nephropathy and some cases of focal …

Massively parallel sequencing identifies pathogenic variants in the genes affected in Alport
syndrome (COL4A3–COL4A5) in as many as 30% of individuals with focal and segmental …

Background The reported prevalence of Alport syndrome varies from one in 5000 to one in
53,000 individuals. This study estimated the frequencies of predicted pathogenic COL4A3 …

Genetic testing for pathogenic COL4A3–5 variants is usually undertaken to investigate the
cause of persistent hematuria, especially with a family history of hematuria or kidney function …

Background Multiple genes underlying focal segmental glomerulosclerosis (FSGS) and/or
steroid-resistant nephrotic syndrome (SRNS) have been identified, with the recent inclusion …

Abstract The recent Chandos House meeting of the Alport Variant Collaborative extended
the indications for screening for pathogenic variants in the COL4A5, COL4A3 and COL4A4 …

Rationale & Objective Alport syndrome is a common genetic kidney disease accounting for
approximately 2% of patients receiving kidney replacement therapy (KRT). It is caused by …

Results The cohort was composed of 193 individuals from 179 families. Nearly half (49%)
developed ESKD at a mean age of 47±17 years. The genetic diagnostic rate was 11%. Of …

The glomerular basement membrane (GBM) is an important component of the kidney's
glomerular filtration barrier. Like all basement membranes, the GBM contains type IV …

Results The median renal survival time was 70 years, and the median age at first detection
of proteinuria was 17 years old. There was one patient with hearing loss and one patient …