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中华肾病研究电子杂志 ›› 2017, Vol. 06 ›› Issue (01) : 44 -47. doi: 10.3877/cma.j.issn.2095-3216.2017.01.010

所属专题: 经典病例 经典病例 文献

病例报告

腓骨肌萎缩症合并局灶节段性肾小球硬化和(或)硬化性肾炎一例
宋成成1, 吴镝1,()   
  1. 1. 100853 北京,解放军总医院肾脏病科、解放军肾脏病研究所、肾脏疾病国家重点实验室、国家慢性肾病临床医学研究中心
  • 收稿日期:2016-09-25 出版日期:2017-02-28
  • 通信作者: 吴镝

A case of Charcot-Marie-Tooth disease complicated with focal segmental glomerulosclerosis/sclerosing glomerulonephritis

Chengcheng Song1, Di Wu1()   

  • Received:2016-09-25 Published:2017-02-28
  • Corresponding author: Di Wu
引用本文:

宋成成, 吴镝. 腓骨肌萎缩症合并局灶节段性肾小球硬化和(或)硬化性肾炎一例[J]. 中华肾病研究电子杂志, 2017, 06(01): 44-47.

Chengcheng Song, Di Wu. A case of Charcot-Marie-Tooth disease complicated with focal segmental glomerulosclerosis/sclerosing glomerulonephritis[J]. Chinese Journal of Kidney Disease Investigation(Electronic Edition), 2017, 06(01): 44-47.

表1 腓骨肌萎缩症合并局灶节段性肾小球硬化和(或)硬化性肾炎患者实验室及影像检查结果
项目 结果
血常规+CRP+IL-6 血红蛋白137 g/L、红细胞4.89×1012/L、白细胞8.34×109/L、中性粒细胞0.67、淋巴细胞0.24、血小板288×109/L、CRP< 3.28 mg/L、IL-6<2.00 ng/L
凝血常规 血浆活化部分凝血活酶时间测定51.1 s↑、血浆凝血酶原时间测定14.3 s、国际标准化比值1.11、血浆纤维蛋白原测定6.63 g/L↑、血浆D-二聚体测定0.36 mg/L
血生化 丙氨酸氨基转移酶8.5 U/L、天冬氨酸氨基转移酶9.0 U/L、总蛋白53.7g/L↓、白蛋白33.1 g/L↓、碱性磷酸酶226.6 U/L↑、γ-谷氨酰基转移酶14.2 U/L、葡萄糖4.22 mmol/L、尿素氮20.00 mmol/L↑、肌酐416.1 μmol/L↑、尿酸521.4 μmol/L↑、乳酸脱氢酶209.8 U/L、钙2.20 mmol/L、无机磷1.91 mmol/L↑、钾4.31 mmol/L、总胆固醇6.84 mmol/L↑、甘油三酯2.89 mmol/L↑、高密度脂蛋白胆固醇1.08 mmol/L、低密度脂蛋白胆固醇5.08 mmol/L↑、胱抑素(Cystatin C) 3.79 mg/L↑、补体C3 115.0 g/L、补体C4 38.4 g/L
免疫学检查 IgE 356.0 U/L↑、IgA 123.0 g/L、IgG 401.0 g/L↓、IgM 96.1 g/L、免疫球蛋白轻链KAP测定107.0 g/L↓、免疫球蛋白轻链LAM测定70.5 g/L↓、血β2-微球蛋白测定1.26 g/L↑,自身抗体谱检测11项全阴
尿常规 比重1.008、pH 6.5、红细胞(-)/HPF、白细胞(-)/HPF、蛋白700 mg/L、葡萄糖300 mg/L
24 h尿蛋白定量 5.98~7.28 g(测定3次)
肾脏超声 皮质回声增强,双肾慢性肾实质损害
超声心动图 左心房增大;二尖瓣少量反流
血管超声检查 椎动脉、颈动脉、颈静脉、肾动脉、下肢静脉均未见异常
脑部MRI平扫 脑部未见异常;多组鼻窦炎
肌电图检查 周围神经受损
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