Familial renal amyloidosis

Familial renal amyloidosis is a form of amyloidosis primarily presenting in the kidney.[1]

Familial renal amyloidosis
Other namesFamilial visceral amyloidosis, hereditary amyloid nephropathy
This condition is inherited in an autosomal dominant manner
SpecialtyNephrology

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]

References
  1. "Amyloid".
  2. Gillmore JD, Lachmann HJ, Rowczenio D, Gilbertson JA, Zeng CH, Liu ZH, Li LS, Wechalekar A, Hawkins PN (2009). "Diagnosis, pathogenesis, treatment, and prognosis of hereditary fibrinogen A alpha-chain amyloidosis". Journal of the American Society of Nephrology. 20 (2): 444–51. doi:10.1681/ASN.2008060614. PMC 2637055. PMID 19073821.
  3. 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. doi:10.3109/13506129809003844. PMID 9818055.
  4. 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. Bibcode:1992PNAS...89.7389S. doi:10.1073/pnas.89.16.7389. PMC 49715. PMID 1502149.
  5. 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.
  6. 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. S2CID 9761588.
  7. Ostertag B. (1932). "Demonstration einer eigenartigen familiaren paraamyloidose". Zentralbl Aug Pathol. 56: 253–4.
  8. Ostertag, B. (1950). "Familiaere Amyloid-erkrankung". Z. Menschl. Vererb. Konstitutionsl. 30: 105–115.


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