Familial renal amyloidosis
| Familial renal amyloidosis | |
| ICD-10 | E85.0 |
|---|---|
| ICD-9 | 277.3 |
| OMIM | 105200 |
| DiseasesDB | 33335 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Synonyms and keywords: Familial visceral amyloidosis; hereditary amyloid nephropathy; Ostertag type
Overview
Familial renal amyloidosis is a form of amyloidosis primarily presenting in the kidney.[1]
Historical Perspective
It is also known as "Ostertag" type, after B. Ostertag, who characterized it in 1932 and 1950.[2][3]
Pathophysiology
Associated Conditions
It is associated with fibrinogen alpha chain,[4] apolipoprotein A1,[5] and lysozyme.[6][7]
References
- ↑ Amyloid.
- ↑ Ostertag B. Demonstration einer eigenartigen familiaren paraamyloidose. Zentralbl Aug Pathol. 1932;56:253-4.
- ↑ Ostertag, B. Familiaere Amyloid-erkrankung. Z. Menschl. Vererb. Konstitutionsl. 30: 105-115, 1950.
- ↑ Uemichi T, Liepnieks JJ, Gertz MA, Benson MD (September 1998). "Fibrinogen A alpha chain Leu 554: an African-American kindred with late onset renal amyloidosis". Amyloid 5 (3): 188–92. PMID 9818055.
- ↑ Soutar AK, Hawkins PN, Vigushin DM, et al (August 1992). "Apolipoprotein AI mutation Arg-60 causes autosomal dominant amyloidosis". Proc. Natl. Acad. Sci. U.S.A. 89 (16): 7389–93. PMID 1502149.
- ↑ Granel B, Serratrice J, Disdier P, et al (March 2005). "Underdiagnosed amyloidosis: amyloidosis of lysozyme variant". Am. J. Med. 118 (3): 321–2. doi:10.1016/j.amjmed.2004.10.022. PMID 15745733.
- ↑ Granel B, Valleix S, Serratrice J, et al (January 2006). "Lysozyme amyloidosis: report of 4 cases and a review of the literature". Medicine (Baltimore) 85 (1): 66–73. doi:10.1097/01.md.0000200467.51816.6d. PMID 16523055.
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