Onco-Epilepsy: More Than Tumor and Seizures.
Onco-Epilepsy: More Than Tumor and Seizures.
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肿瘤性癫痫：不仅仅是肿瘤和癫痫发作。
DOI：
10.1016/j.mayocp.2018.06.019
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发表时间：
2018
影响因子：
8.9
通讯作者：
Quinones-Hinojosa,Alfredo
中科院分区：
文献类型：
--
作者：
Tatum4th,WilliamO;Quinones-Hinojosa,Alfredo
目的描述C3肾病的临床病理特征、补体异常、触发因素、治疗和结局。患者和方法本研究评估了2007年1月1日至2016年12月31日期间在马约诊所就诊的总共114名C3肾病患者。结果整个队列的平均诊断年龄为40.4±22.3岁，中位血清肌酐水平和蛋白尿值分别为1.6 mg/dL（范围：0.3-14.7）（转换为mmol/L，乘以0.0259）和2605 mg/24 h（范围：233- 24，165）。血尿100例（87.7%）。112例患者中有50例（44.6%）和110例患者中有13例（11.8%）的C3和C4水平较低。114例患者中有33例（28.9%）有感染史，114例患者中有28例（24.6%）有阳性自身免疫性结果，95例患者中有36例（37.9%）有单克隆丙种球蛋白病（MIg）。然而，43例50岁或以上的患者中有28例（65.1%）患有MIg。补体基因、C3肾炎因子（C3 Nef）和其他自身抗体的遗传变异分别存在于70例患者中的26例（37.1%）、69例患者中的30例（43.5%）和67例患者中的9例（13.4%）。膜增生性和系膜增生性肾小球肾炎是常见的损伤类型。无MIg的患者较年轻（平均年龄，32.3±20.6岁），中位血清肌酐水平和蛋白尿值为1.4 mg/dL（范围：0.3-7.9）和2450 mg/24 h（范围：250-24，165），分别有38/77例（49.4%）和9/75例（12.0%）患者的C3和C4水平较低。大多数患者接受皮质类固醇和其他免疫抑制药物治疗。在无MIg的患者中，中位随访22.3个月（范围：0.1-201.1），中位血清肌酐水平和蛋白尿值为1.4 mg/dL（范围：0.3-3.7）和825.5 mg/24 h（范围：76-22，603），和7例患者（9.2%）进展至结束-结论C3肾小球疾病是一种异质性疾病，具有复杂的触发事件和旁路途径异常，补体这种疾病往往是渐进的，并表现出对免疫抑制治疗的可变反应。
ObjectiveTo describe the clinicopathological features, complement abnormalities, triggers, treatment, and outcomes of C3 glomerulopathy.Patients and MethodsA total of 114 patients with C3 glomerulopathy seen at Mayo Clinic from January 1, 2007, through December 31, 2016, were evaluated in this study.ResultsThe mean age at diagnosis for the entire cohort was 40.4±22.3 years, with a median serum creatinine level and proteinuria value of 1.6 mg/dL (range: 0.3-14.7) (to convert to mmol/L, multiply by 0.0259) and 2605 mg/24 h (range: 233-24,165), respectively. Hematuria was present in 100 patients (87.7%). The C3 and C4 levels were low in 50 of 112 (44.6%) and 13 of 110 (11.8%) patients, respectively. A history of infection, positive autoimmune findings, and monoclonal gammopathy (MIg) were present in 33 of 114 (28.9%), 28 of 114 (24.6%), and 36 of 95 (37.9%) patients, respectively. However, 28 of 43 patients 50 years or older (65.1%) had MIg. A genetic variant in complement genes, C3 nephritic factor (C3Nef), and other autoantibodies was present in 26 of 70 (37.1%), 30 of 69 (43.5%), and 9 of 67 (13.4%) patients, respectively. Membranoproliferative and mesangial proliferative glomerulonephritis were the common patterns of injury. Patients without MIg were younger (mean age, 32.3±20.6 years), with a median serum creatinine level and proteinuria value of 1.4 mg/dL (range: 0.3-7.9) and 2450 mg/24 h (range: 250-24, 165) and with low C3 and C4 levels in 38 of 77 (49.4%) and 9 of 75 (12.0%) patients, respectively. Most patients received corticosteroids and other immunosuppressive drugs. In patients without MIg, at a median follow-up of 22.3 months (range: 0.1-201.1), the median serum creatinine level and proteinuria value were 1.4 mg/dL (range: 0.3-3.7) and 825.5 mg/24 h (range: 76-22, 603), and 7 patients (9.2%) had progression to end-stage renal disease.ConclusionC3 glomerulopathy is a heterogeneous disease entity with complex triggering events and abnormalities of the alternative pathway of complement. The disease tends to be progressive and exhibits a variable response to immunosuppressive therapy.