Familial renal amyloidosis

Familial renal amyloidosis

Infobox_Disease
Name = PAGENAME


Caption =
DiseasesDB = 33335
ICD10 = ICD10|E|85|0|e|70
ICD9 = ICD9|277.3
ICDO =
OMIM = 105200
MedlinePlus =
eMedicineSubj = med
eMedicineTopic = 3379
MeshID =

Familial renal amyloidosis (or familial visceral amyloidosis, or hereditary amyloid nephropathy) is a form of amyloidosis primarily presenting in the kidney.cite web |url=http://neuromuscular.wustl.edu/nother/amyloid.htm#transthyretin |title=Amyloid |format= |work= |accessdate=]

It is associated with fibrinogen alpha chain,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=] apolipoprotein A1,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] and lysozyme.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] 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]

It is also known as "Ostertag" type, after B. Ostertag, who characterized it in 1932 and 1950. [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.]

References


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