Recent expert guidelines recommend genetic testing for the diagnosis of Alport syndrome.
Here, we describe current best practice and likely future developments. In individuals with …

Steroid-resistant nephrotic syndrome (SRNS) is a common cause of chronic kidney disease
in childhood and has a significant risk of rapid progression to end-stage renal disease. The …

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 …

Mutations in the genes COL4A3, COL4A4, and COL4A5 affect the synthesis, assembly,
deposition, or function of the collagen IV α345 molecule, the major collagenous constituent …

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 …

Increased levels of the urinary albumin-to-creatinine ratio (UACR) are associated with
higher risk of kidney disease progression and cardiovascular events, but underlying …

Background Complement is a key component of the innate immune system, and variation in
genes that regulate its activation is associated with renal and other disease. We aimed to …

Molecular diagnosis of inherited kidney diseases remains a challenge due to their
expanding phenotypic spectra as well as the constantly growing list of disease-causing …

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 …