Atypical hemolytic uremic syndrome and acute tubular necrosis induced by complement factor B gene (CFB) mutation: A case report.
Atypical hemolytic uremic syndrome and acute tubular necrosis induced by complement factor B gene (CFB) mutation: A case report.
复制标题
补体因子B基因（CFB）突变引起的非典型溶血性尿毒症综合征和急性肾小管坏死
DOI：
10.1097/md.0000000000025069
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发表时间：
2021-03-19
期刊：
影响因子：
1.6
通讯作者：
Zhang L
中科院分区：
文献类型：
--
作者：
Wu H;Su S;Li L;Zhang L
非典型溶血性尿毒症综合征(AHUS)是一种罕见而严重的疾病，主要表现为溶血性贫血、血小板减少和急性肾损伤。基因补体异常已被证明是原因之一。与其他基因突变引起的aHUS相比，成人继发于CFB突变的aHUS极为罕见。我们报告一例患有CFB突变的成人发展为AHUS。1例56岁男性患者入院治疗，有4天的恶心和疲劳史，2天无尿，昏迷10 小时。患者出现危及生命的贫血、血小板减少、急性肾损伤和神经系统异常。患者外周血涂片上有裂隙细胞，乳酸脱氢酶(LDH)升高，血浆游离血红蛋白水平升高。患者后来被发现携带CFB基因的致病变异(C.1598A>；G)，并被诊断为AHUS和急性肾损伤。患者接受了血浆置换、连续性肾脏替代治疗、输血、抗感染和抗高血压治疗。治疗后患者意识恢复正常，血红蛋白、血小板、血肌酐恢复正常。在随访期间，疾病活动保持静止。描述了CFB基因中一种罕见的杂合子突变c.1598A>；Gp.Lys 533Arg，它与成人发病的aHUS有关，并成功地进行了治疗。此病例有助于了解这种罕见疾病的早期诊断和有效的治疗方法。
Atypical hemolytic uremic syndrome (aHUS) is an uncommon and serious disease that manifests hemolytic anemia, thrombocytopenia, and acute kidney injury. Genetic complement abnormalities have been shown to be responsible. Compared with the aHUS caused by other mutated genes, aHUS secondary to CFB mutation in adults is extremely rare. We report an adult with CFB mutation developing aHUS. A 56-year-old man was admitted for 4-day history of nausea and fatigue, anuria for 2 days, and unconsciousness for 10 hours. The patient presented with life-threatening anemia, thrombocytopenia, acute kidney injury, and nervous system abnormalities. The patient had schistocytes on the peripheral blood smear, increased lactate dehydrogenase (LDH), and plasma-free hemoglobin levels. The patient was later found to harbor a pathogenic variant in the CFB gene (C.1598A>G), and was diagnosed with aHUS and acute kidney injury. The patient was treated by plasmapheresis, continuous renal replacement therapy, blood transfusion, and anti-infective and antihypertensive treatment. After the treatment, the patient's consciousness returned to normal, and the hemoglobin, platelet, and serum creatinine recovered. The disease activity remained quiescent during the follow-up. A rare heterozygous variant c.1598A>G p.Lys 533Arg in the CFB gene, which was associated with adult-onset aHUS, was described and successfully treated. This case can help in understanding the early diagnosis and effective therapies of this rare disease.