Clinical Manifestation of Patients With Atypical Hemolytic Uremic Syndrome With the C3 p.I1157T Variation in the Kinki Region of Japan.
Clinical Manifestation of Patients With Atypical Hemolytic Uremic Syndrome With the C3 p.I1157T Variation in the Kinki Region of Japan.
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DOI：
10.1177/1076029618771750
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发表时间：
2018-11
期刊：
影响因子：
--
通讯作者：
Wada H
中科院分区：
文献类型：
--
作者：
Matsumoto T;Toyoda H;Amano K;Hirayama M;Ishikawa E;Fujimoto M;Ito M;Ohishi K;Katayama N;Yoshida Y;Matsumoto M;Kawamura N;Ikejiri M;Kawakami K;Miyata T;Wada H
先前在三重大学医院的8例非典型溶血性尿毒综合征（阿胡斯）患者中发现了C3中的功能获得性变异p.I1157T。在本研究中，我们确定了另外11例具有这种变异的阿胡斯患者，包括10例儿科患者（发病年龄：1-16岁）。这种变异似乎在地理上集中在日本的三重县周围。19例阿胡斯患者中有15例发生感染，可能是触发事件。所有19例患者均有肾功能不全。7名患者，包括来自先前研究的2名和来自本研究的5名，用依库珠单抗治疗，所有患者均显示出良好的反应，血液学正常化。在本研究中接受依库珠单抗治疗的5例患者中，3例由于轻度溶血，即使乳酸脱氢酶和胆红素水平升高，阿胡斯的诊断也不明确。在这些情况下，内部靶向DNA测序鉴定了C3 p.I1157T变异携带者，这使得能够早期启动依库珠单抗治疗。本研究支持在阿胡斯患者，特别是儿科患者中早期引入依库珠单抗。
The gain-of-function variation p.I1157T in C3 was previously identified in 8 patients with atypical hemolytic uremic syndrome (aHUS) at Mie University Hospital. In the present study, we identified another 11 patients with aHUS with this variation, including 10 pediatric patients (onset age: 1-16 years). The variation seems to be geographically concentrated around Mie Prefecture in Japan. Fifteen of the 19 patients with aHUS experienced infection as probable triggering events. All 19 patients had renal dysfunction. Seven patients, including 2 from the previous study and 5 from the present study, were treated with eculizumab, with all showing a good response with hematological normalization. Among the 5 eculizumab-treated patients in the present study, 3 had an ambiguous diagnosis of aHUS due to low-grade hemolysis even with elevated levels of lactate dehydrogenase and bilirubin. In those cases, in-house targeted DNA sequencing identified the C3 p.I1157T variation carriers, which enabled the early initiation of treatment with eculizumab. The present study supports the early introduction of eculizumab in patients with aHUS, especially pediatric patients.
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影响因子：
20.3
作者：
Schramm, Elizabeth C.;Roumenina, Lubka T.;Fremeaux-Bacchi, Veronique
通讯作者：
Fremeaux-Bacchi, Veronique
影响因子：
6
作者：
Bomback AS;Markowitz GS;Appel GB
通讯作者：
Appel GB
影响因子：
13.6
作者：
Sellier-Leclerc, Anne-Laure;Fremeaux-Bacchi, Veronique;Loirat, Chantal
通讯作者：
Loirat, Chantal
影响因子：
3.7
作者：
Yoshida Y;Miyata T;Matsumoto M;Shirotani-Ikejima H;Uchida Y;Ohyama Y;Kokubo T;Fujimura Y
通讯作者：
Fujimura Y
影响因子：
19.6
作者：
Greenbaum, Larry A.;Fila, Marc;Licht, Christoph
通讯作者：
Licht, Christoph