Familial renal amyloidosis is a form of amyloidosis primarily presenting in the kidney.
It is associated most commonly with congenital mutations in the fibrinogen alpha chain and classified as a dysfibrinogenemia (see Hereditary Fibrinogen Aα-Chain Amyloidosis). and, less commonly, with congenital mutations in apolipoprotein A1 and lysozyme.
It is also known as "Ostertag" type, after B. Ostertag, who characterized it in 1932 and 1950.
References
Further reading
- Li, Danyang; Liu, Dan; Xu, Hui; Yu, Xiao-juan; Zhou, Fu-de; Zhao, Ming-hui; Wang, Su-xia (2019). "Typing of hereditary renal amyloidosis presenting with isolated glomerular amyloid deposition". BMC Nephrology. 20 (1): 476. doi:10.1186/s12882-019-1667-5. ISSN 1471-2369. PMC 6929319. PMID 31870425.
- Yamanaka, S.; Miyazaki, Y.; Kasai, K.; Ikeda, S.-i.; Kiuru-Enari, S.; Hosoya, T. (March 27, 2013). "Hereditary renal amyloidosis caused by a heterozygous G654A gelsolin mutation: a report of two cases". Clinical Kidney Journal. 6 (2). Oxford University Press (OUP): 189–193. doi:10.1093/ckj/sft007. ISSN 2048-8505. PMC 4432447. PMID 26019848.
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