| 词条 | Familial renal amyloidosis |
| 释义 |
| 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 | pronounce = | field = Nephrology | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }}Familial renal amyloidosis is a form of amyloidosis primarily presenting in the kidney.[1] It is associated most commonly with congenital mutations in the fibrinogen alpha chain and classified as a dysfibrinogenemia (see Hereditary Fibrinogen Aα-Chain Amyloidosis).[2][3] and, less commonly, with congenital mutations in apolipoprotein A1[4] and lysozyme.[5][6] It is also known as "Ostertag" type, after B. Ostertag, who characterized it in 1932 and 1950.[7][8] References1. ^{{cite web |url=http://neuromuscular.wustl.edu/nother/amyloid.htm#transthyretin |title=Amyloid |format= |website= |accessdate=}} 2. ^{{cite journal | vauthors = Gillmore JD, Lachmann HJ, Rowczenio D, Gilbertson JA, Zeng CH, Liu ZH, Li LS, Wechalekar A, Hawkins PN | title = Diagnosis, pathogenesis, treatment, and prognosis of hereditary fibrinogen A alpha-chain amyloidosis | journal = Journal of the American Society of Nephrology : JASN | volume = 20 | issue = 2 | pages = 444–51 | year = 2009 | pmid = 19073821 | pmc = 2637055 | doi = 10.1681/ASN.2008060614 | url = }} 3. ^{{cite journal |vauthors=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 |date=September 1998 |pmid=9818055 |doi= 10.3109/13506129809003844|url=}} 4. ^{{cite journal |author=Soutar AK |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 |date=August 1992 |pmid=1502149 |pmc=49715 |doi= 10.1073/pnas.89.16.7389|name-list-format=vanc|author2=Hawkins PN |author3=Vigushin DM |display-authors=3 |last4=Tennent |first4=GA |last5=Booth |first5=SE |last6=Hutton |first6=T |last7=Nguyen |first7=O |last8=Totty |first8=NF |last9=Feest |first9=TG}} 5. ^{{cite journal |author=Granel B |title=Underdiagnosed amyloidosis: amyloidosis of lysozyme variant |journal=Am. J. Med. |volume=118 |issue=3 |pages=321–2 |date=March 2005 |pmid=15745733 |doi=10.1016/j.amjmed.2004.10.022 |url=http://linkinghub.elsevier.com/retrieve/pii/S0002-9343(04)00745-4 |name-list-format=vanc|author2=Serratrice J |author3=Disdier P |display-authors=3 |last4=Weiller |first4=P |last5=Valleix |first5=S |last6=Grateau |first6=G |last7=Droz |first7=D}} 6. ^{{cite journal |author=Granel B |title=Lysozyme amyloidosis: report of 4 cases and a review of the literature |journal=Medicine (Baltimore) |volume=85 |issue=1 |pages=66–73 |date=January 2006 |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 |name-list-format=vanc|author2=Valleix S |author3=Serratrice J |display-authors=3 |last4=Ch??Rin |first4=Patrick |last5=Texeira |first5=Antonio |last6=Disdier |first6=Patrick |last7=Weiller |first7=Pierre-Jean |last8=Grateau |first8=Gilles}} 7. ^{{cite journal |author=Ostertag B. |title=Demonstration einer eigenartigen familiaren paraamyloidose |journal=Zentralbl Aug Pathol |volume=56 |pages=253–4 |year=1932}} 8. ^{{cite journal |author=Ostertag, B. |title=Familiaere Amyloid-erkrankung |journal=Z. Menschl. Vererb. Konstitutionsl. |volume=30 |pages=105–115 |year=1950 }} External links{{Medical resources| DiseasesDB = 33335 | ICD10 = {{ICD10|E|85|0|e|70}} | ICD9 = {{ICD9|277.3}} | ICDO = | OMIM = 105200 | MedlinePlus = | eMedicineSubj = med | eMedicineTopic = 3379 | MeshID = }}{{Amyloidosis}}{{Urologic disease}}{{Lipid metabolism disorders}}{{disease-stub}} 1 : Nephrology |
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