Togashi Hayato, Shimosato Yuko, Saida Ken, Miyake Noriko, Nakamura Takeshi, Ito Shuichi
Department of Pediatrics, Saiseikai Yokohamashi Nanbu Hospital, Yokohama, Japan.
Department of Pediatrics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Front Pediatr. 2020 Mar 19;8:107. doi: 10.3389/fped.2020.00107. eCollection 2020.
Thromboembolic events are rare but critical complications in childhood nephrotic syndrome. The veins are more commonly affected, while arterial thrombosis is extremely rare but often life-threatening. Herein, we describe the clinical course of a 10-years-old girl with catastrophic multiple arterial thrombosis at the primary onset of nephrotic syndrome who underwent bilateral above-knee amputation. A previous healthy 10-years-old girl contracted the influenza B virus. Five days later, she suddenly developed severe ischemia in both legs. Physical examination showed eyelid and leg edema, and laboratory tests revealed hypoalbuminemia and acute kidney injury. After undergoing contrast-enhanced computed tomography, the patient was diagnosed with multiple arterial thrombosis (including the bilateral iliac arteries) due to nephrotic syndrome. Despite the performance of surgical thrombectomies, fasciotomy, and systematic heparinization, she required bilateral above-knee amputation. The patient achieved spontaneous remission of nephrotic syndrome, and her renal function fully recovered. There were no findings suggestive of secondary nephrotic syndrome and antiphospholipid syndrome. Her protein C and protein S concentrations were slightly decreased at admission. However, whole-exome sequencing revealed a thrombotic risk variant (T630I) in the gene encoding protein S. This missense variant is often reported in patients with thrombosis or protein S deficiency, and may result in a thrombotic predisposition in some situations, such as nephrotic syndrome. Arterial thrombosis is a rare complication; however, it must be considered, especially in patients with new-onset nephrotic syndrome. Early recognition is important for early intervention and prevention of serious sequelae.
血栓栓塞事件在儿童肾病综合征中虽罕见但为严重并发症。静脉更常受累，而动脉血栓形成极为罕见但常危及生命。在此，我们描述一名10岁女孩在肾病综合征初发时发生灾难性多发性动脉血栓形成的临床过程，该女孩接受了双侧膝上截肢手术。一名此前健康的10岁女孩感染了乙型流感病毒。五天后，她突然双下肢出现严重缺血。体格检查显示眼睑和下肢水肿，实验室检查发现低蛋白血症和急性肾损伤。在接受增强计算机断层扫描后，该患者被诊断为因肾病综合征导致的多发性动脉血栓形成（包括双侧髂动脉）。尽管进行了手术取栓、筋膜切开术和系统性肝素化治疗，她仍需要双侧膝上截肢。该患者肾病综合征实现自发缓解，肾功能完全恢复。未发现提示继发性肾病综合征和抗磷脂综合征的迹象。入院时她的蛋白C和蛋白S浓度略有降低。然而，全外显子测序显示编码蛋白S的基因存在血栓形成风险变异（T630I）。这种错义变异在血栓形成或蛋白S缺乏患者中常被报道，在某些情况下，如肾病综合征，可能导致血栓形成倾向。动脉血栓形成是一种罕见的并发症；然而，必须予以考虑，尤其是在新发肾病综合征患者中。早期识别对于早期干预和预防严重后遗症很重要。
