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 …

Digenic Alport syndrome refers to the inheritance of pathogenic variants in COL4A5 plus
COL4A3 or COL4A4 or in COL4A3 plus COL4A4. Where digenic Alport syndrome includes a …

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 …

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 …

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 …

The glomerular basement membrane is a vital component of the filtration barrier of the
kidney and is primarily composed of a highly structured matrix of type IV collagen. Specific …

Digenic inheritance (DI) concerns pathologies with the simplest form of multigenic etiology,
implicating more than 1 gene (and perhaps the environment). True DI is when biallelic or …

In 1927 Arthur Cecil Alport, a South African physician, described a British family with an
inherited form of kidney disease that affected males more severely than females and was …

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