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Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysis
American Journal of Medical Genetics Part A ( IF 2 ) Pub Date : 2020-12-10 , DOI: 10.1002/ajmg.a.62000
Maxwell L Summerlin 1 , Debra S Regier 1 , Jamie L Fraser 1 , Kimberly A Chapman 1 , Dariush Kafashzadeh 1 , Charles Billington 1 , Monisha Kisling 1 , Angela Grochowsky 1 , Nicholas Ah Mew 1 , Natasha Shur 1
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Current rhabdomyolysis treatment guidelines vary based on the etiology and diagnosis, yet many cases evade conclusive diagnosis. In these cases, treatment options remain largely limited to fluids and supportive therapy. We present two cases of acute rhabdomyolysis diagnosed in the emergency department: a 5‐year‐old boy with sudden onset bilateral flank pain, and a 13‐year‐old boy with 2–3 days of worsening pectoral and shoulder pain. Each patient had a prior similar episode requiring hospitalization in the past. The 5‐year‐old had no inciting trauma or trigger, medication use, or illness. The 13‐year‐old previously had an upper respiratory infection during the week prior and had been strenuously exercising at the time of onset. Genetic testing results were unknown for both patients during their hospitalizations, and insurance and other barriers led to delay. Later results for the first patient revealed a heterozygous deletion in intron 19 on the LPIN1 gene interpreted as a variant of unknown significance. During their hospitalizations, both children were started on intravenous (i.v.) fluids, and creatine kinase (CK) initially trended downward, but then began to rise or plateau. After reviewing the cases, prior literature, and anecdotal evidence of benefit from corticosteroid therapy in rhabdomyolysis with our consultant metabolic physicians, dexamethasone was initiated. In both patients, dexamethasone use correlated with relief of patient symptoms, significantly decreased CK value, and our ability to discharge these patients home quickly. Our cases, discussion, and literature review all lead to the consideration of the use of dexamethasone in conjunction with standard therapy for acute rhabdomyolysis.

中文翻译:

地塞米松在特发性急性小儿横纹肌溶解症中的应用

当前的横纹肌溶解治疗指南因病因和诊断而异,但许多病例仍未作出确凿的诊断。在这些情况下,治疗选择仍主要限于输液和支持疗法。我们介绍了急诊科诊断出的两例急性横纹肌溶解症:一个5岁的男孩突然发作了双侧胁腹疼痛,一个13岁的男孩出现了2-3天的胸痛和肩痛加重。每个患者以前都有类似的发作,过去需要住院治疗。5岁的孩子没有任何外伤或诱发因素,药物使用或疾病。这位13岁的儿童此前曾在一周内患有上呼吸道感染,并且在发病时一直在剧烈运动。两名患者住院期间的基因检测结果均未知,而保险等障碍导致了延误。第一位患者的后来结果显示,该位点内含子19杂合缺失。LPIN1基因被解释为未知意义的变异。在他们住院治疗,两个孩子都开始静脉注射(v。)流体和肌酸激酶(CK)开始呈下降趋势,但随后开始上升或高原。在与我们的咨询代谢医生一起回顾了病例,现有文献以及在横纹肌溶解中受益于皮质类固醇疗法的轶事证据后,开始使用地塞米松。在这两名患者中,地塞米松的使用与患者症状的缓解,CK值显着降低以及我们迅速将这些患者送回家的能力相关。我们的病例,讨论和文献回顾均导致考虑将地塞米松与标准疗法联合用于急性横纹肌溶解症。
更新日期:2021-01-12
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