Chronic kidney disease (CKD) is defined by persistent urine abnormalities, structural
abnormalities or impaired excretory renal function suggestive of a loss of functional …

The glomerular basement membrane (GBM) is a key component of the glomerular capillary
wall and is essential for kidney filtration. The major components of the GBM include …

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 …

Alport syndrome is a genetically and phenotypically heterogeneous disorder of glomerular,
cochlear, and ocular basement membranes resulting from mutations in the collagen IV …

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 …

Alport syndrome (AS) is a progressive hereditary renal disease that is characterized by
sensorineural hearing loss and ocular abnormalities. It is divided into three modes of …

The overall diagnostic yield of massively parallel sequencing–based tests in patients with
chronic kidney disease (CKD) is 30% for paediatric cases and 6–30% for adult cases. These …

In 2013, we published a set of clinical practice recommendations for the treatment of Alport
syndrome in this journal. We recommended delaying the initiation of angiotensin-converting …

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