Hereditary renal amyloidosis with a variant lysozyme p.Trp82Arg in a Chinese family: case report and literature review
Author:
Funder
National Natural Science Foundation of China
Publisher
Springer Science and Business Media LLC
Subject
Nephrology
Link
http://link.springer.com/content/pdf/10.1186/s12882-019-1496-6.pdf
Reference21 articles.
1. Benson MD. Other systemic forms of amyloidosis. In: Gertz MA, Rajkumar SV, editors. Amyloidosis: diagnosis and treatment. Totowa, NJ: Humana Press; 2010. p. 205–25.
2. Valleix S, Verona G, Jourde-Chiche N, Nedelec B, Mangione PP, Bridoux F, et al. D25V apolipoprotein C-III variant causes dominant hereditary systemic amyloidosis and confers cardiovascular protective lipoprotein profile. Nat Commun. 2016;7:10353.
3. Nasr SH, Dasari S, Hasadsri L, Theis JD, Vrana JA, Gertz MA, et al. Novel type of renal amyloidosis derived from apolipoprotein-CII. Journal of the American Society of Nephrology : JASN. 2017;28(2):439–45.
4. Granel B, Valleix S, Serratrice J, Cherin P, Texeira A, Disdier P, et al. Lysozyme amyloidosis: report of 4 cases and a review of the literature. Medicine. 2006;85(1):66–73.
5. Pepys MB, Hawkins PN, Booth DR, Vigushin DM, Tennent GA, Soutar AK, et al. Human lysozyme gene mutations cause hereditary systemic amyloidosis. Nature. 1993;362(6420):553–7.
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