横纹肌溶解症
医学
肌红蛋白尿
肉碱
介绍(产科)
疾病
儿科
内科学
肌病
电解质紊乱
重症监护医学
低钠血症
外科
作者
Benjamin McCormick,Răzvan M. Chirilă
出处
期刊:Romanian Journal of Internal Medicine
日期:2021-11-20
卷期号:59 (4): 420-424
被引量:1
标识
DOI:10.2478/rjim-2021-0021
摘要
Carnitine palmitoyltransferase-II deficiency, an autosomal recessive disorder, is the most common cause of recurrent rhabdomyolysis in adults. Recognition and avoidance of triggers, such as heavy exercise and stress, is key in prevention of further episodes; however, even with preventative measures, many patients will continue to experience periodic symptoms, including rhabdomyolysis. Avoidance of renal failure, correction of electrolyte disturbances and halting further muscle breakdown are the goals of treatment. It is essential for clinicians to recognize the signs and symptoms of acute disease in CPT-II deficiency. We present a case of recurrent rhabdomyolysis requiring hospitalization in a patient with CPT-II deficiency and review the literature for common clinical manifestations, diagnostics, and treatment strategies.
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