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首页> 外文期刊>Case Reports in Genetics >Multifactorial Origin of Exertional Rhabdomyolysis, Recurrent Hematuria, and Episodic Pain in a Service Member with Sickle Cell Trait
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Multifactorial Origin of Exertional Rhabdomyolysis, Recurrent Hematuria, and Episodic Pain in a Service Member with Sickle Cell Trait

机译：镰状细胞特质的服务性成员发生横纹肌溶解，反复性血尿和发作性疼痛的多因素起源

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摘要

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, reported in nephropathy and a new variant p.R838Q in SCN11A, a gene involved in familial episodic pain syndrome. Results suggest that drug-to-drug interactions coupled with the stress of exercise, coinheritance of HbAS and NPHS2 p.V260E, and p. R838Q in SCN11A contributed to exertional rhabdomyolysis, recurrent hematuria with proteinuria, and episodic pain, respectively. This case underscores the importance of comprehensive clinical and genetic evaluations to identify underlying causes of health complications reported in SCT individuals.
机译：通常被认为是血红蛋白S（HbAS）良性携带者的镰状细胞性状（SCT）个体处于劳累性横纹肌溶解和血尿的危险中，这些疾病也可能由其他各种获得性和遗传性因素引起。我们报告SCT积极服务成员有劳累性横纹肌溶解事件，复发性血尿伴一过性蛋白尿和下肢发作性烧灼痛。临床和遗传研究揭示了他复杂表型的多因素性质。该服务人员正在服用与劳累性横纹肌溶解症有关的处方药。他携带肾病中报告的致病性突变NPHS2 p.V260E和SCN11A中的新变异p.R838Q，该基因与家族性阵发性疼痛综合征有关。结果表明，药物相互作用与运动压力，HbAS和NPHS2 p.V260E和p.2的相干性相关。 SCN11A中的R838Q分别导致劳累性横纹肌溶解，复发性血尿伴蛋白尿和发作性疼痛。该案例强调了全面的临床和基因评估对确定SCT个人中报告的健康并发症的根本原因的重要性。

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