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Alport syndrome

GC: n

S: NIH - https://ghr.nlm.nih.gov/condition/alport-syndrome(external link) (last access: 3 June 2017); MEDLP - https://medlineplus.gov/spanish/ency/article/000504.htm(external link) (last access: 1 March 2018).

N: 1. - Alport (pn): Arthur Cecil Alport was a South African physician (1880-1959).
- syndrome (n): “A number of symptoms occurring together," 1540s, from medical Latin, from Greek syndrome "concurrence of symptoms, concourse of people," from syndromos "place where several roads meet," literally "a running together," from syn- "with" + dromos "a running, course". Psychological sense is from 1955.
2. Alport Syndrome is caused by mutations in the type IV collagen genes. Type IV collagen is a family of six proteins, or chains, that are known as alpha-1 through alpha-6. Mutations that affect the alpha-3, alpha-4, and alpha-5 chains cause Alport Syndrome. The 3 genetic types of Alport Syndrome are:
  • XLAS (X-linked Alport Syndrome): The most common form that accounts for 80% to 85% of the cases and results from mutations of the alpha-5 chain type IV collagen (gene COL4A5).
  • ARAS (autosomal recessive Alport Syndrome): This form accounts for 15% of the cases and is caused by mutations in the alpha-3 or alpha-4 chains (genes COL4A3 or COL4A4).
  • ADAS (autosomal dominant Alport Syndrome): Rare form that accounts for about 5% of the cases and is caused by mutations in the alpha-3 or alpha-4 chains (genes COL4A3 or COL4A4).
3. Signs and symptoms:
  • Renal manifestations
    • Hematuria: Most common and earliest manifestation of Alport syndrome.
    • Proteinuria: Develops in males with XLAS and in males and females with ARAS and ADAS.
    • Hypertension: Usually present in males with XLAS and in males and females with ARAS and ADAS.
4. Cultural Interrelation:
  • Reality: We could mention that the English drummer and electronic music producer, Thom Sonny Green, has Alport syndrome.
  • Fiction: The eighth and final season of House M.D. (TV Series 2004–2012), episode 7 "Dead & Buried".
S: 1. OED - http://www.etymonline.com/index.php?term=syndrome(external link) WNMDT - http://www.whonamedit.com/doctor.cfm/184.html(external link) (last access: 3 June 2017). 2. ASF - http://alportsyndrome.org/alport-syndrome/alport-syndrome-genetics/(external link) (last access: 3 June 2017). 3. EME - http://emedicine.medscape.com/article/238260-overview(external link) (last access: 3 June 2017). 4. WN - http://www.wetherbynews.co.uk/whats-on/music/inside-story-alt-j-s-amazing-drummer-s-rise-to-fame-1-5138568(external link) (last access: 3 June 2017); TMH p. 63.

CR: nephrology


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