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Familial renal amyloidosis
| Field | Value |
|---|---|
| name | Familial renal amyloidosis |
| synonyms | Familial visceral amyloidosis, hereditary amyloid nephropathy |
| image | Autosomal dominant - en.svg |
| caption | This condition is inherited in an autosomal dominant manner |
| field | Nephrology |
Familial renal amyloidosis is a form of amyloidosis primarily presenting in the kidney.
It is associated most commonly with congenital mutations in the fibrinogen alpha chain and classified as a dysfibrinogenemia (see Hereditary Fibrinogen Aα-Chain Amyloidosis). and, less commonly, with congenital mutations in apolipoprotein A1 and lysozyme.
It is also known as "Ostertag" type, after B. Ostertag, who characterized it in 1932 and 1950.
References
References
- "Amyloid".
- (2009). "Diagnosis, pathogenesis, treatment, and prognosis of hereditary fibrinogen A alpha-chain amyloidosis". Journal of the American Society of Nephrology.
- (September 1998). "Fibrinogen A alpha chain Leu 554: an African-American kindred with late onset renal amyloidosis". Amyloid.
- Soutar AK. (August 1992). "Apolipoprotein AI mutation Arg-60 causes autosomal dominant amyloidosis". Proc. Natl. Acad. Sci. U.S.A..
- Granel B. (March 2005). "Underdiagnosed amyloidosis: amyloidosis of lysozyme variant". Am. J. Med..
- Granel B. (January 2006). "Lysozyme amyloidosis: report of 4 cases and a review of the literature". Medicine (Baltimore).
- Ostertag B.. (1932). "Demonstration einer eigenartigen familiaren paraamyloidose". Zentralbl Aug Pathol.
- Ostertag, B.. (1950). "Familiaere Amyloid-erkrankung". Z. Menschl. Vererb. Konstitutionsl..
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