A Case of Atypical Hemolytic Uremic Syndrome With a Complement Factor I Mutation Triggered by a Femoral Neck Fracture.

IF 2.4 4区 医学 Q2 UROLOGY & NEPHROLOGY
Nephrology Pub Date : 2025-03-01 DOI:10.1111/nep.70010
Toshiki Kano, Hiroaki Io, Yu Sasaki, Masahiro Muto, Sayaka Muto, Kei Ogiwara, Arisa Ikeda, Hiroyuki Iwasaki, Yusuke Suzuki
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Abstract

Atypical hemolytic uremic syndrome is a thrombotic microangiopathy caused by the abnormal activation of the alternative complement pathway. Mutations in complement-related genes and autoantibodies against complement regulators are involved in the pathogenesis of this condition; the frequency of, and prognosis of patients harbouring, each genetic mutation varies based on the region and race. Complement factor I (CFI) mutations have been observed in 4%-8% of cases in Europe; however, they have not yet been reported in Japan. We present the first Japanese case of atypical hemolytic uremic syndrome in a patient harbouring a CFI mutation. An 83-year-old female patient presented with severe acute kidney injury, thrombocytopenia, and hemolytic anaemia following a femoral neck fracture. Plasma exchange and haemodialysis were initiated, resulting in improved kidney function and platelet count. However, the platelet count decreased when plasma exchange was discontinued. Therefore, we administered ravulizumab, an anti-complement 5 monoclonal antibody, which led to the maintenance of stable kidney function and platelet count. Genetic analysis revealed a CFI mutation, and the patient was treated with ravulizumab for 2 years without relapse. Individuals diagnosed with atypical hemolytic uremic syndrome harbouring CFI mutations experience poor outcomes, including low rates of remission, high rates of mortality, and progression to end-stage kidney disease. Our case serves as a crucial example demonstrating how prompt identification and appropriate management can lead to better patient outcomes.

股骨颈骨折引发补体因子I突变的非典型溶血性尿毒症综合征1例。
非典型溶血性尿毒症综合征是一种由替代补体途径异常激活引起的血栓性微血管病变。补体相关基因的突变和针对补体调节因子的自身抗体参与了这种疾病的发病机制;每种基因突变的发生频率和患者的预后因地区和种族而异。补体因子I (CFI)突变在欧洲4%-8%的病例中被观察到;然而,在日本尚未有报道。我们提出的第一个日本病例的非典型溶血性尿毒症综合征的病人窝藏一个CFI突变。一例83岁女性患者在股骨颈骨折后出现严重急性肾损伤、血小板减少症和溶血性贫血。开始血浆置换和血液透析,导致肾功能和血小板计数改善。然而,停止血浆交换后,血小板计数下降。因此,我们给予抗补体5单克隆抗体ravulizumab,从而维持稳定的肾功能和血小板计数。遗传分析显示CFI突变,患者接受拉乌利珠单抗治疗2年未复发。被诊断为携带CFI突变的非典型溶血性尿毒症综合征的个体预后不佳,包括缓解率低、死亡率高、进展为终末期肾病。我们的病例是一个重要的例子,证明了及时识别和适当的管理可以带来更好的患者结果。
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来源期刊
Nephrology
Nephrology 医学-泌尿学与肾脏学
CiteScore
4.50
自引率
4.00%
发文量
128
审稿时长
4-8 weeks
期刊介绍: Nephrology is published eight times per year by the Asian Pacific Society of Nephrology. It has a special emphasis on the needs of Clinical Nephrologists and those in developing countries. The journal publishes reviews and papers of international interest describing original research concerned with clinical and experimental aspects of nephrology.
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