Medical Dictionary

Alport syndrome

noun Al·port syndrome \ ˈal-ˌpȯrt- \

variants: or Alport's syndrome

medical Definition of Alport syndrome

: a genetic disorder of the kidneys that is usually inherited as an X-linked trait, is typically more severe in males, and is characterized especially by blood in the urine, hearing loss, abnormalities of the eye, and progressive renal failure

Note: Alport syndrome is caused by mutations in genes encoding a type of collagen normally present in basement membranes.

Most victims of Alport syndrome experience progressive kidney failure, often requiring a kidney transplant or prolonged kidney dialysis.
—William Booth, The Washington Post, 8 June 1990

Biographical Note for alport syndrome

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.