Familial renal amyloidosis: Difference between revisions
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{{SK}} Familial visceral amyloidosis; hereditary amyloid nephropathy | |||
'''Familial renal amyloidosis''' | ==Overview== | ||
'''Familial renal amyloidosis''' is a form of [[amyloidosis]] primarily presenting in the [[kidney]].<ref name="urlAmyloid">{{cite web |url=http://neuromuscular.wustl.edu/nother/amyloid.htm#transthyretin |title=Amyloid |format= |work= |accessdate=}}</ref> | |||
==Historical Perspective== | |||
It is also known as "Ostertag" type, after B. Ostertag, who characterized it in 1932 and 1950.<ref>Ostertag B. Demonstration einer eigenartigen familiaren paraamyloidose. Zentralbl Aug Pathol. 1932;56:253-4.</ref><ref>Ostertag, B. Familiaere Amyloid-erkrankung. Z. Menschl. Vererb. Konstitutionsl. 30: 105-115, 1950.</ref> | |||
==Pathophysiology== | |||
===Associated Conditions=== | |||
It is associated with [[fibrinogen alpha chain]],<ref name="pmid9818055">{{cite journal |author=Uemichi T, Liepnieks JJ, Gertz MA, Benson MD |title=Fibrinogen A alpha chain Leu 554: an African-American kindred with late onset renal amyloidosis |journal=Amyloid |volume=5 |issue=3 |pages=188–92 |year=1998 |month=September |pmid=9818055 |doi= |url=}}</ref> [[apolipoprotein A1]],<ref name="pmid1502149">{{cite journal |author=Soutar AK, Hawkins PN, Vigushin DM, ''et al'' |title=Apolipoprotein AI mutation Arg-60 causes autosomal dominant amyloidosis |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=89 |issue=16 |pages=7389–93 |year=1992 |month=August |pmid=1502149 |pmc=49715 |doi= |url=http://www.pnas.org/cgi/pmidlookup?view=long&pmid=1502149}}</ref> and [[lysozyme]].<ref name="pmid15745733">{{cite journal |author=Granel B, Serratrice J, Disdier P, ''et al'' |title=Underdiagnosed amyloidosis: amyloidosis of lysozyme variant |journal=Am. J. Med. |volume=118 |issue=3 |pages=321–2 |year=2005 |month=March |pmid=15745733 |doi=10.1016/j.amjmed.2004.10.022 |url=http://linkinghub.elsevier.com/retrieve/pii/S0002-9343(04)00745-4}}</ref><ref name="pmid16523055">{{cite journal |author=Granel B, Valleix S, Serratrice J, ''et al'' |title=Lysozyme amyloidosis: report of 4 cases and a review of the literature |journal=Medicine (Baltimore) |volume=85 |issue=1 |pages=66–73 |year=2006 |month=January |pmid=16523055 |doi=10.1097/01.md.0000200467.51816.6d |url=http://meta.wkhealth.com/pt/pt-core/template-journal/lwwgateway/media/landingpage.htm?an=00005792-200601000-00007}}</ref> | It is associated with [[fibrinogen alpha chain]],<ref name="pmid9818055">{{cite journal |author=Uemichi T, Liepnieks JJ, Gertz MA, Benson MD |title=Fibrinogen A alpha chain Leu 554: an African-American kindred with late onset renal amyloidosis |journal=Amyloid |volume=5 |issue=3 |pages=188–92 |year=1998 |month=September |pmid=9818055 |doi= |url=}}</ref> [[apolipoprotein A1]],<ref name="pmid1502149">{{cite journal |author=Soutar AK, Hawkins PN, Vigushin DM, ''et al'' |title=Apolipoprotein AI mutation Arg-60 causes autosomal dominant amyloidosis |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=89 |issue=16 |pages=7389–93 |year=1992 |month=August |pmid=1502149 |pmc=49715 |doi= |url=http://www.pnas.org/cgi/pmidlookup?view=long&pmid=1502149}}</ref> and [[lysozyme]].<ref name="pmid15745733">{{cite journal |author=Granel B, Serratrice J, Disdier P, ''et al'' |title=Underdiagnosed amyloidosis: amyloidosis of lysozyme variant |journal=Am. J. Med. |volume=118 |issue=3 |pages=321–2 |year=2005 |month=March |pmid=15745733 |doi=10.1016/j.amjmed.2004.10.022 |url=http://linkinghub.elsevier.com/retrieve/pii/S0002-9343(04)00745-4}}</ref><ref name="pmid16523055">{{cite journal |author=Granel B, Valleix S, Serratrice J, ''et al'' |title=Lysozyme amyloidosis: report of 4 cases and a review of the literature |journal=Medicine (Baltimore) |volume=85 |issue=1 |pages=66–73 |year=2006 |month=January |pmid=16523055 |doi=10.1097/01.md.0000200467.51816.6d |url=http://meta.wkhealth.com/pt/pt-core/template-journal/lwwgateway/media/landingpage.htm?an=00005792-200601000-00007}}</ref> | ||
==References== | ==References== | ||
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[[Category:Nephrology]] | [[Category:Nephrology]] | ||
[[Category:Disease]] | |||
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Revision as of 15:40, 27 September 2012
| 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
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 (1998). "Fibrinogen A alpha chain Leu 554: an African-American kindred with late onset renal amyloidosis". Amyloid. 5 (3): 188–92. PMID 9818055. Unknown parameter
|month=ignored (help) - ↑ Soutar AK, Hawkins PN, Vigushin DM; et al. (1992). "Apolipoprotein AI mutation Arg-60 causes autosomal dominant amyloidosis". Proc. Natl. Acad. Sci. U.S.A. 89 (16): 7389–93. PMC 49715. PMID 1502149. Unknown parameter
|month=ignored (help) - ↑ Granel B, Serratrice J, Disdier P; et al. (2005). "Underdiagnosed amyloidosis: amyloidosis of lysozyme variant". Am. J. Med. 118 (3): 321–2. doi:10.1016/j.amjmed.2004.10.022. PMID 15745733. Unknown parameter
|month=ignored (help) - ↑ Granel B, Valleix S, Serratrice J; et al. (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. Unknown parameter
|month=ignored (help)
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Familial renal amyloidosis On the Web |
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Risk calculators and risk factors for Familial renal amyloidosis |