Article
A novel missense mutation in complement factor I predisposes patients to atypical hemolytic uremic syndrome: a case report.
Journal of medical case reports - 4 Mar 2022
Wei Xin, Li Juan, Zhan Xiaojiang, Tu Luxia, Huang Haowen, Wang Ying
Abstract excerpt
BACKGROUND: Atypical hemolytic uremic syndrome, also called the nondiarrheal form of hemolytic uremic syndrome, is a rare disease characterized by the triad of thrombocytopenia, Coomb's test-negative microangiopathic hemolytic anemia, and acute renal failure. Approximately 60% of cases of atypical hemolytic uremic syndrome are associated with deficiencies of the complement regulatory protein, including mutations...
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