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 …

Autosomal dominant polycystic kidney disease (ADPKD) is generally a late-onset
multisystem disorder characterized by bilateral kidney cysts, liver cysts, and an increased …

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 …

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 …

Autosomal dominant polycystic kidney disease (ADPKD), characterized by progressive cyst
formation/expansion, results in enlarged kidneys and often end stage kidney disease …

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 …

The term “autosomal dominant (AD) Alport syndrome” is often used to describe the condition
associated with heterozygous pathogenic COL4A3 or COL4A4 variants and has largely …

Although often considered a single-entity, chronic kidney disease (CKD) comprises many
pathophysiologically distinct disorders that result in persistently abnormal kidney structure …

Alport syndrome is a genetic and hereditary disease, caused by mutations in the type IV
collagen genes COL4A3, COL4A4 and COL4A5, that affects the glomerular basement …

The term “thin basement membrane”(TBM) refers to a glomerular disorder characterized by
diffuse uniform thinning of the glomerular basement membrane (GBM) on electron …