Renal Damage in Recurrent Atypical Hemolytic Uremic Syndrome Associated with C3 p.Ile1157Thr Gene Mutation
Author:
Affiliation:
1. Division of Nephrology and Hypertension, Department of Internal Medicine, The Jikei University School of Medicine, Japan
Publisher
Japanese Society of Internal Medicine
Subject
General Medicine,Internal Medicine
Link
https://www.jstage.jst.go.jp/article/internalmedicine/60/6/60_5716-20/_pdf
Reference18 articles.
1. 1. Noris M, Remuzzi G. Atypical hemolytic-uremic syndrome. N Engl J Med 361: 1676-1687, 2009.
2. 2. Schramm EC, Roumenina LT, Rybkine T, et al. Mapping interactions between complement C3 and regulators using mutations in atypical hemolytic uremic syndrome. Blood 125: 2359-2369, 2015.
3. 3. Fujisawa M, Kato H, Yoshida Y, et al. Clinical characteristics and genetic backgrounds of Japanese patients with atypical hemolytic uremic syndrome. Clin Exp Nephrol 22: 1088-1099, 2018.
4. 4. Matsumoto T, Toyoda H, Amano K, et al. Clinical manifestation of patients with atypical hemolytic uremic syndrome with the C3 p.I1157T variation in the Kinki region of Japan. Clin Appl Thromb Hemost 24: 1301-1307, 2018.
5. 5. Yoshida Y, Miyata T, Matsumoto M, et al. A novel quantitative hemolytic assay coupled with restriction fragment length polymorphisms analysis enabled early diagnosis of atypical hemolytic uremic syndrome and identified unique predisposing mutations in Japan. PLoS One 10: e0124655, 2015.
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