Knowra Alport syndrome Alport syndrome Alport syndrome is an inherited disorder caused by pathogenic variants in genes encoding type IV collagen. It damages kidney filtration membranes and can also affect hearing and vision.
Type IV collagen : A family of basement-membrane proteins that form networks supporting tissues in the kidneys, ears, and eyes. Variants disrupt collagen networks shared by the glomerular basement membrane, cochlea, and eye.
COL4A5 : A gene encoding the alpha-5 chain of type IV collagen. Pathogenic COL4A5 variants cause X-linked Alport syndrome.
Chronic kidney disease : Long-lasting impairment of kidney structure or function, usually measured by reduced filtration or markers of kidney damage. Progressive kidney disease is the principal long-term health consequence of Alport syndrome.
Thin basement membrane nephropathy : An inherited kidney condition commonly marked by persistent microscopic hematuria and a thin glomerular basement membrane. It can resemble mild Alport syndrome, especially in people with single COL4A3 or COL4A4 variants.
Glomerular basement membrane : A specialized extracellular matrix layer that filters blood within kidney glomeruli. Abnormal type IV collagen weakens this filtration layer, causing blood and protein to enter urine.
COL4A3 : A gene encoding the alpha-3 chain of type IV collagen. Variants can cause autosomal Alport syndrome, often alongside COL4A4 variants.
Renin–angiotensin system inhibitors : Medicines that reduce activity of the renin–angiotensin system, including ACE inhibitors and angiotensin receptor blockers. They lower proteinuria and can delay kidney-function decline in Alport syndrome.
Fabry disease : An X-linked lysosomal storage disorder caused by deficient alpha-galactosidase A. It can cause kidney disease and hearing symptoms, but arises from a different biochemical defect.
Hematuria : The presence of blood in urine, visible to the eye or detected by laboratory testing. Microscopic hematuria is often an early sign of kidney involvement.
COL4A4 : A gene encoding the alpha-4 chain of type IV collagen. Pathogenic variants in this gene can disrupt the same collagen network affected by Alport syndrome.
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