Alport syndrome: Video, Causes, & Meaning - Osmosis
Alport syndrome occurs as a result of mutations in Type IV collagen, which is particularly important in the glomerulus of the kidney, the eye, and the cochlea, and that’s why the symptoms of Alport syndrome are specific to those tissues.
Video: Alport syndrome - Osmosis
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Alport syndrome - an Osmosis preview - YouTube
Alport syndrome is a genetic condition where type IV collagen, a protein component important for the basement membrane, is misfolded, causing issues with the kidneys, the inner ear, and the...
Alport Syndrome: Causes, Symptoms & Treatment - Cleveland Clinic
2022年9月19日 · Alport syndrome is a condition that affects your kidneys. Mutations in your collagen genes cause Alport syndrome. Symptoms include blood and protein in your pee and hearing and vision loss. It may also cause kidney failure. …
Clinical manifestations, diagnosis, and treatment of Alport syndrome ...
2023年6月6日 · Alport syndrome (also referred to as hereditary nephritis) is an inherited progressive form of glomerular disease that is often associated with sensorineural hearing loss and ocular abnormalities [1].
Alport Syndrome - StatPearls - NCBI Bookshelf
2020年9月6日 · Alport syndrome is a genetic condition characterized by kidney disease, loss of hearing, and eye abnormalities. It occurs due to an abnormality of a gene that codes for type 4 collagen and usually presents in patients with hematuria, edema, and hypertension.
Alport Syndrome | National Kidney Foundation
2022年12月20日 · Alport syndrome is a disease that damages the tiny blood vessels in your kidneys. It can lead to kidney disease and kidney failure. It can also cause hearing loss and problems within the eyes. Alport syndrome causes damage to your kidneys by attacking the glomeruli. Glomeruli are the tiny filtering units inside your kidneys
Alport syndrome - Symptoms, diagnosis and treatment - BMJ …
2024年11月5日 · Alport syndrome is a rare familial nephropathy due to abnormalities in type IV collagen. May be inherited in 1 of 4 patterns: X-linked, autosomal recessive, autosomal dominant or autosomal digenic. Associated with considerable clinical variability of age of onset of chronic kidney disease or end-...
Alport Syndrome - GeneReviews® - NCBI Bookshelf
2001年8月28日 · Alport syndrome is a familial renal disorder caused by pathogenic variants in COL4A3, COL4A4, and COL4A5 that result in abnormalities of the collagen IV α345 network of basement membranes [Kashtan et al 2018]. Alport syndrome can be transmitted in an X-linked (XLAS), autosomal dominant (ADAS), or autosomal recessive (ARAS) pattern.