Alport syndrome

An hereditary condition characterized by kidney disease, sensorineural (nerve) deafness and sometimes eye defects. The classic disorder as described by Alport in 1927 is nephritis (inflammation of the kidney), often progressing to renal failure, and sensorineural (nerve) hearing loss affecting both sexes in successive generations. The kidney disease becomes evident as recurrent microscopic or gross hematuria (blood in the urine) as early as childhood, and usually earlier in males than in females. Progression to renal failure is gradual and usually occurs in males by the fifth decade. The sensorineural (nerve) hearing loss in Alport syndrome primarily affects high tones and occurs in 30 to 50% of relatives with renal disease. The severity of the auditory and renal features do not correlate in a given individual with Alport syndrome. Alport syndrome is not one disease. It has diverse genetic causes; there are X-linked and autosomal dominant and recessive forms of Alport syndrome. There are also diverse clinical types of Alport syndrome including, for example, juvenile-onset Alport syndrome with deafness, adult-onset Alport syndrome with deafness, and adult Alport syndrome without deafness. The X-linked disorder that has come to be known as Alport syndrome is characterized by hematuria (blood in the urine), progressive renal failure, and sensorineural (nerve) hearing loss and is frequently associated with both eye abnormalities (such as lens and retinal anomalies) as well as the identification of mutations in the gene encoding what is called the basement membrane specific type IV collagen alpha-5 chain (COL4A5), an X-linked gene. This syndrome was proven to be an X-linked dominant disorder.

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Al·port syndrome 'al-.pȯrt- n a usu. X-linked inherited disorder that is typically more severe in males, is characterized esp. by hematuria, hearing loss, abnormalities of the eye, and progressive renal failure, and is caused by defective or absent collagen normally present in basement membranes

Alport Arthur Cecil (1880-1959)

British physician. Born in South Africa and trained in Edinburgh, Scotland, Alport served with the Royal Army Medical Corps in South West Africa and the Balkans during World War I. After the war he worked as a specialist in tropical medicine for the Ministry of Pensions in London. Beginning in 1922 he served as assistant director of a newly established medical unit at St. Mary's Hospital. In 1927 he reported on three generations of a family with combinations of progressive hereditary nephritis and deafness, noting that hematuria was the most common presenting symptom. In 1937 he went to Cairo to take the post of professor of medicine at King Faud I Hospital, but he later returned to his old hospital in London. The eponym Alport syndrome was coined in his honor in 1961.

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Al·port syndrome (alґport) [Arthur Cecil Alport, South African–born English physician, 1880–1959] see under syndrome.