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- Title
An Infant Case of Streptococcus Pneumoniae-Associated Thrombotic Microangiopathy with Heterozygous CFI Mutation and CFHR3-CFHR1 Deletion.
- Authors
Yuji Matsumoto; Yohei Ikezumi; Tomomi Kondoh; Katsuyuki Yokoi; Yoko Nakajima; Naonori Kumagai; Takema Kato; Hiroki Kurahashi; Tetsuya Ito
- Abstract
Thrombotic microangiopathy (TMA) is a disease that causes organ damage due to microvascular hemolytic anemia, thrombocytopenia, and microvascular platelet thrombosis. Streptococcus pneumoniae-associated TMA (spTMA) is a rare complication of invasive pneumococcal infection. In addition, atypical hemolytic uremic syndrome (aHUS) is TMA associated with congenital or acquired dysregulation of complement activation. We report the case of a nine-month-old boy with refractory nephrotic syndrome complicated by spTMA in the setting of heterozygous complement factor-I (CFI) gene mutation and CFHR3-CFHR1 deletion. He repeatedly developed thrombocytopenia, anemia with schistocytes, hypocomplementemia, and abnormal coagulation triggered by infection, which manifested clinically with convulsions and an intraperitoneal hematoma. Eculizumab (a monoclonal humanized anti-C5 antibody) provided transient symptomatic benefit including improvement in thrombocytopenia; however, he developed unexplained cardiac arrest and was declared brain dead a few days later. In this report, we highlight the diagnostic challenges of this case and the causal relationship between spTMA and complement abnormalities and consider the contribution of heterozygous mutation of CFI and CFHR3-CFHR1 deletion.
- Subjects
DELETION mutation; HEMOLYTIC-uremic syndrome; BLOOD coagulation disorders; STREPTOCOCCAL diseases; STREPTOCOCCUS; PAROXYSMAL hemoglobinuria; THROMBOTIC thrombocytopenic purpura
- Publication
Tohoku Journal of Experimental Medicine, 2022, Vol 258, Issue 3, p183
- ISSN
0040-8727
- Publication type
Article
- DOI
10.1620/tjem.2022.J076