Carnitine palmitoyltransferase-II deficiency: case presentation and review of the literature.

IF 1.6 Q2 MEDICINE, GENERAL & INTERNAL Romanian Journal of Internal Medicine Pub Date : 2021-11-20 Print Date: 2021-12-01 DOI:10.2478/rjim-2021-0021
Benjamin J Mccormick, Razvan M Chirila
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引用次数: 2

Abstract

Abstract 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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肉毒碱棕榈酰基转移酶ii缺乏症:病例报告和文献回顾。
肉碱棕榈酰基转移酶ii缺乏症是一种常染色体隐性遗传病,是成人复发性横纹肌溶解的最常见原因。识别和避免诱因,如剧烈运动和压力,是预防进一步发作的关键;然而,即使有预防措施,许多患者将继续经历周期性症状,包括横纹肌溶解。避免肾功能衰竭,纠正电解质紊乱和阻止进一步的肌肉分解是治疗的目标。临床医生必须认识到CPT-II缺乏急性疾病的体征和症状。我们报告了一例复发性横纹肌溶解需要住院治疗的CPT-II缺乏症患者,并回顾了常见的临床表现、诊断和治疗策略的文献。
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来源期刊
Romanian Journal of Internal Medicine
Romanian Journal of Internal Medicine MEDICINE, GENERAL & INTERNAL-
CiteScore
3.20
自引率
5.30%
发文量
35
审稿时长
15 weeks
期刊介绍: Romanian Journal of Physics is a journal publishing physics contributions on the following themes: •Theoretical Physics & Applied Mathematics •Nuclear Physics •Solid State Physics & Materials Science •Statistical Physics & Quantum Mechanics •Optics •Spectroscopy •Plasma & Lasers •Nuclear & Elementary Particles Physics •Atomic and Molecular Physics •Astrophysics •Atmosphere and Earth Science •Environment Protection
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