Familial renal amyloidosis explained

Familial renal amyloidosis
Synonyms:	Familial visceral amyloidosis, hereditary amyloid nephropathy
Field:	Nephrology

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]}

Further reading

• Li . Danyang . Liu . Dan . Xu . Hui . Yu . Xiao-juan . Zhou . Fu-de . Zhao . Ming-hui . Wang . Su-xia . Typing of hereditary renal amyloidosis presenting with isolated glomerular amyloid deposition . BMC Nephrology . 20 . 1 . 2019 . 476 . 1471-2369 . 31870425 . 6929319 . 10.1186/s12882-019-1667-5 . free . none.
• Yamanaka . S. . Miyazaki . Y. . Kasai . K. . Ikeda . S.-i. . Kiuru-Enari . S. . Hosoya . T. . Hereditary renal amyloidosis caused by a heterozygous G654A gelsolin mutation: a report of two cases . Clinical Kidney Journal . Oxford University Press (OUP) . 6 . 2 . March 27, 2013 . 2048-8505 . 10.1093/ckj/sft007 . 189–193 . 26019848 . 4432447 . none.

Notes and References

1. Web site: Amyloid .
2. Gillmore JD, Lachmann HJ, Rowczenio D, Gilbertson JA, Zeng CH, Liu ZH, Li LS, Wechalekar A, Hawkins PN . Diagnosis, pathogenesis, treatment, and prognosis of hereditary fibrinogen A alpha-chain amyloidosis . Journal of the American Society of Nephrology . 20 . 2 . 444–51 . 2009 . 19073821 . 2637055 . 10.1681/ASN.2008060614 .
3. Uemichi T, Liepnieks JJ, Gertz MA, Benson MD . Fibrinogen A alpha chain Leu 554: an African-American kindred with late onset renal amyloidosis . Amyloid . 5 . 3 . 188–92 . September 1998 . 9818055 . 10.3109/13506129809003844.
4. Soutar AK . Apolipoprotein AI mutation Arg-60 causes autosomal dominant amyloidosis . Proc. Natl. Acad. Sci. U.S.A. . 89 . 16 . 7389–93 . August 1992 . 1502149 . 49715 . 10.1073/pnas.89.16.7389. vanc. Hawkins PN . Vigushin DM . 3 . Tennent . GA . Booth . SE . Hutton . T . Nguyen . O . Totty . NF . Feest . TG. 1992PNAS...89.7389S . free .
5. Granel B . Underdiagnosed amyloidosis: amyloidosis of lysozyme variant . Am. J. Med. . 118 . 3 . 321–2 . March 2005 . 15745733 . 10.1016/j.amjmed.2004.10.022 . vanc. Serratrice J . Disdier P . 3 . Weiller . P . Valleix . S . Grateau . G . Droz . D. free .
6. Granel B . Lysozyme amyloidosis: report of 4 cases and a review of the literature . Medicine (Baltimore) . 85 . 1 . 66–73 . January 2006 . 16523055 . 10.1097/01.md.0000200467.51816.6d . vanc. Valleix S . Serratrice J . 3 . Ch??Rin . Patrick . Texeira . Antonio . Disdier . Patrick . Weiller . Pierre-Jean . Grateau . Gilles. 9761588 . free .
7. Ostertag B. . Demonstration einer eigenartigen familiaren paraamyloidose . Zentralbl Aug Pathol . 56 . 253–4 . 1932.
8. Ostertag, B. . Familiaere Amyloid-erkrankung . Z. Menschl. Vererb. Konstitutionsl. . 30 . 105–115 . 1950 .