TY - JOUR A2 - Yapijakis, Christos AU - Sambuughin, Nyamkhishig AU - Ren, Mingqiang AU - Capacchione, John F. AU - Mungunsukh, Ognoon AU - Chuang, Kevin AU - Horkayne-Szakaly, Iren AU - O’Connor, Francis G. AU - Deuster, Patricia A. PY - 2018 DA - 2018/11/07 TI - Multifactorial Origin of Exertional Rhabdomyolysis, Recurrent Hematuria, and Episodic Pain in a Service Member with Sickle Cell Trait SP - 6898546 VL - 2018 AB - Individuals with Sickle Cell Trait (SCT), generally considered a benign carrier state of hemoglobin S (HbAS), are thought to be at risk for exertional rhabdomyolysis and hematuria, conditions that can also be caused by various other acquired and inherited factors. We report an SCT positive service member with an exertional rhabdomyolysis event, recurrent hematuria with transient proteinuria, and episodic burning pain in the lower extremities. Clinical and genetic studies revealed the multifactorial nature of his complex phenotype. The service member was taking prescription medications known to be associated with exertional rhabdomyolysis. He carried a pathogenic mutation, NPHS2.p.v260e，在肾病和新变种的p.r838q中报道 scn11a.，参与家族性疼痛综合征的基因。结果表明，药物 - 药物相互作用与运动应力，HBA的辅导和 NPHS2.p.v260e和p。R838Q In. scn11a.为蛋白尿和蛋白尿的经常性血尿，以及情节疼痛的促进横纹肌分解。本案强调了综合临床和遗传评估的重要性，以确定SCT个人报告的健康并发症的潜在原因。SN - 2090-6544 UR - https://doi.org/10.1155/2018/6898546 Do - 10.1155/2018 / 6898546 JF - 遗传学PB - Hindawi KW - ER的案例报告 -