Ivin Nicholas, Della Torre Valentina, Sanders Francis, Youngman Matthew
Critical Care Unit, West Suffolk Hospital, NHS Foundation Trust, Bury St Edmunds, UK.
Department of Critical Care, Imperial College Healthcare NHS Trust, St Mary's Hospital, London, UK.
J Intensive Care Soc. 2020 May;21(2):165-173. doi: 10.1177/1751143719889766. Epub 2019 Dec 18.
Carnitine palmitoyltransferase 2 deficiency is an inherited metabolic disorder involving a deficiency in a mitochondrial enzyme necessary for long chain fatty acid oxidation, and therefore decreased utilisation of fatty acids. The adult form of this condition leads to recurrent rhabdomyolysis triggered by exercise, fasting and infection. It is a very rare condition with only a few hundred reported cases worldwide. Here we present a case of severe rhabdomyolysis in the context of carnitine palmitoyltransferase 2 deficiency in which major organ involvement was avoided, and organ support was not needed. This prompted us to perform a systematic review of the existing case reports in the literature to ascertain the most frequent patterns of organ involvement and assess the outcomes that are seen in these patients. Our findings suggest that these patients most frequently develop isolated renal failure, often requiring renal replacement therapy; however, the outcomes following this are very good, supporting the early involvement of intensive care teams.
肉碱棕榈酰转移酶2缺乏症是一种遗传性代谢紊乱疾病，涉及一种线粒体酶缺乏，该酶是长链脂肪酸氧化所必需的，因此脂肪酸利用率降低。这种疾病的成人形式会导致由运动、禁食和感染引发的复发性横纹肌溶解症。这是一种非常罕见的疾病，全球仅报告了几百例病例。在此，我们报告一例肉碱棕榈酰转移酶2缺乏症导致的严重横纹肌溶解症病例，该病例避免了主要器官受累，也无需器官支持。这促使我们对文献中现有的病例报告进行系统综述，以确定最常见的器官受累模式，并评估这些患者的预后。我们的研究结果表明，这些患者最常出现孤立性肾衰竭，通常需要肾脏替代治疗；然而，此后的预后非常好，这支持重症监护团队的早期介入。
