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 …

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 …

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 …

Alport syndrome spectrum can be considered as a group of genetic diseases affecting the
major basement membrane collagen type IV network in various organs including the ear …

Alport syndrome is characterized by hematuria, progressive kidney failure, hearing loss, and
ocular abnormalities. 1 X-linked inheritance caused by pathogenic COL4A5 variants is much …

Background To identify the critical genes in the onset and progression of Immunoglobulin A
nephropathy (IgAN) and to explore its immune cell infiltration feature. Methods Differentially …

Alport syndrome is a genetic disorder affecting the basement membranes of the kidney, ear
and eye, and represents a leading cause of monogenic kidney disease. Alport syndrome is …

Abstract Autosomal Dominant Polycystic Kidney Disease (ADPKD), characterized by
progressive cyst formation/expansion, results in enlarged kidneys and often end stage …