Hearing loss effect of Alport syndrome in 13-year-old boy
Specialty
Medical genetics
Alport syndrome is a genetic disorder[1] affecting around 1 in 5,000-10,000 children,[2] characterized by glomerulonephritis, end-stage kidney disease, and hearing loss.[3] Alport syndrome can also affect the eyes, though the changes do not usually affect vision, except when changes to the lens occur in later life. Blood in urine is universal. Proteinuria is a feature as kidney disease progresses.[4]
The disorder was first identified in a British family by the physician Cecil A. Alport in 1927.[5][6] Alport syndrome once also had the label hereditary nephritis, but this is misleading as there are many other causes of hereditary kidney disease and 'nephritis'.
Alport syndrome is caused by an inherited defect in type IV collagen—a structural material that is needed for the normal function of different parts of the body. Since type IV collagen is found in the ears, eyes, and kidneys, this explains why Alport syndrome affects different seemingly unrelated parts of the body (ears, eyes, kidneys, etc.).
Depending on where the mutation is located in the genome, Alport syndrome can present itself in many forms. This includes X-linked Alport syndrome (XLAS), autosomal recessive Alport syndrome (ARAS), and autosomal dominant Alport syndrome (ADAS).[7]
^"Diseases of the Kidney: Alport Syndrome". Archived from the original on 2004-06-12. Retrieved 2004-06-16.
^"What is Alport syndrome?". Alport syndrome. Archived from the original on 2019-01-06. Retrieved 2019-01-06.
^"Alport syndrome" at Dorland's Medical Dictionary
^"Alport Syndrome". National Kidney Foundation. 2015-12-24. Retrieved 2022-08-01.
^Lagona E, Tsartsali L, Kostaridou S, Skiathitou A, Georgaki E, Sotsiou F (April 2008). "Skin biopsy for the diagnosis of Alport syndrome". Hippokratia. 12 (2): 116–8. PMC 2464308. PMID 18923659.
^Alport AC (March 1927). "Hereditary familial congenital haemorrhagic nephritis". British Medical Journal. 1 (3454): 504–6. doi:10.1136/bmj.1.3454.504. JSTOR 25322864. PMC 2454341. PMID 20773074.
Alportsyndrome is a genetic disorder affecting around 1 in 5,000-10,000 children, characterized by glomerulonephritis, end-stage kidney disease, and...
males. Mutations to the genes[COL4A5] coding for collagen IV lead to Alportsyndrome. This will cause thinning and splitting of the glomerular basement...
impairment should prompt a search for hereditary nephritis such as Alportsyndrome.[citation needed] The molecular basis for thin basement membrane disease...
Epstein syndrome was first discovered in 1972 when two families had similar symptoms to Alportsyndrome. Epstein syndrome and other Alport-like disorders...
syndrome Lenticonus posterior; lenticonus posterior is more common than lenticonus anterior and is sometimes found in Lowe syndromeAlportsyndrome mostly...
nephrotic syndrome. This form of glomerulonephritis may be associated with conditions such as HIV and heroin abuse, or inherited as Alportsyndrome. The cause...
syndrome is caused by a different mutation. For example, the vascular type (vEDS) of this disorder is caused by a mutation in collagen type 3. Alport...
Samoyed breed of dog. The disease has been shown to be a model for Alportsyndrome in humans in that the disease resembles that of the human disease....
genetic disorders and hereditary diseases has been verified, including: Alportsyndrome Colorectal cancer due to hereditary nonpolyposis colorectal cancer...
Fechtner syndrome is a variant of Alportsyndrome characterized by leukocyte inclusions, macrothrombocytopenia,thrombocytopenia, nephritis, and sensorineural...
facial appearance, eye abnormalities, hearing loss, and joint problems. Alportsyndrome – defects in collagen (type IV), found in the renal basement membrane...
causes of isolated hematuria include thin basement membrane disease and Alportsyndrome, the latter being a hereditary disease associated with hearing impairment...
PS (2003). "Cyclosporine A Slows the Progressive Renal Disease of AlportSyndrome (X-Linked Hereditary Nephritis): Results from a Canine Model". Journal...
the collagen fibers of the basement membrane, including Alportsyndrome and Knobloch syndrome Autoimmune diseases targeting basement membranes. Non-collagenous...
well as rare skeletal syndromes such as Bruck syndrome, hypophosphatasia, geroderma osteodysplasticum, and Ehlers–Danlos syndrome.: 1513 : 253–256 Various...
with Alportsyndrome, craniosynostosis, dwarfism, Down syndrome, Parry–Romberg syndrome, Marfan syndrome, mucolipidosis, Frank–ter Haar syndrome, crouzon...
Green's medical problems with anxiety and major hearing loss due to Alportsyndrome. Green plays without any type of cymbals, instead replacing the usual...
normal. Can be caused by insulin deficiency or resultant hyperglycemia. Alportsyndrome is a X-linked hereditary nephritis caused by mutations in type IV collagen...
Arthur Cecil Alport, M.D. (1880–1959) was a South African physician who first identified the Alportsyndrome in a British family in 1927. After graduating...
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