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肉碱棕榈酰转移酶II缺乏症中复发性横纹肌溶解症的治疗

Battling Recurrent Rhabdomyolysis in Carnitine Palmitoyltransferase II Deficiency.

作者信息

Isar Muhammad Mohsin, Begum Hosna Ara, Mustafa Rafid, Kibria Saifuddin Mohammad, Fernandez Cornelius J

机构信息

Acute Medicine, United Lincolnshire Hospitals NHS Trust, Boston, GBR.

Acute Medicine, United Lincolnshire Hospitals NHS trust, Boston, GBR.

出版信息

Cureus. 2024 Oct 15;16(10):e71524. doi: 10.7759/cureus.71524. eCollection 2024 Oct.

Abstract

Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that impairs the mitochondrial oxidation of long-chain fatty acids, leading to decreased utilization of these fatty acids. The adult form of this condition is characterized by recurrent rhabdomyolysis, often exacerbated by exercise, fasting, extremes of temperature, and infections. This case study details a severe episode of rhabdomyolysis triggered by a chest infection in a patient with CPT II deficiency. It discusses the management strategies for such acute episodes, emphasizing the importance of immediate intervention and avoiding potential triggers to prevent severe complications. The findings highlight the necessity of proactive management and preventive measures to mitigate risks in affected individuals.

摘要

肉碱棕榈酰转移酶II(CPT II)缺乏症是一种遗传性代谢紊乱疾病,会损害长链脂肪酸的线粒体氧化,导致这些脂肪酸的利用率降低。这种疾病的成人形式的特征是反复出现横纹肌溶解症,运动、禁食、极端温度和感染常常会加重病情。本病例研究详细介绍了一名CPT II缺乏症患者因胸部感染引发的严重横纹肌溶解症发作。它讨论了此类急性发作的管理策略,强调了立即干预的重要性以及避免潜在诱因以预防严重并发症的重要性。研究结果突出了积极管理和预防措施对于降低受影响个体风险的必要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a259/11562013/3f006e6620c4/cureus-0016-00000071524-i01.jpg

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