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一位极长链酰基辅酶 A 脱氢酶(VLCAD)缺乏症患者的围产期病程复杂。

Complicated peripartum course in a patient with very long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency.

机构信息

Department of Pediatrics, Pediatric Metabolism and Nutrition Unit, Hacettepe University Faculty of Medicine, Ankara 06230, Turkey.

Department of Obstetrics and Gynecology, Perinatology Unit, Hacettepe University Faculty of Medicine, Ankara, Turkey.

出版信息

Neuromuscul Disord. 2021 Jun;31(6):566-569. doi: 10.1016/j.nmd.2021.03.015. Epub 2021 Apr 9.

Abstract

Very long-chain acyl-coenzyme A (CoA) dehydrogenase (VLCAD) deficiency is an autosomal recessive fatty acid oxidation disorder characterized by rhabdomyolysis, hypoglycemia and cardiomyopathy. The general treatment approach in adult patients is based on the prevention of catabolism. High carbohydrate, low fat diet and supplementation of medium-chain triglycerides are essential in the treatment. There is little experience with pregnancy follow-up in this patient group. We present a complicated peripartum course and successful management in a patient with VLCAD deficiency. Although high-dose glucose infusion was initiated, creatine kinase levels significantly increased in the immediate postpartum period, but the patient remained asymptomatic and rhabdomyolysis resolved rapidly after increasing the glucose infusion rate.

摘要

长链酰基辅酶 A 脱氢酶(VLCAD)缺乏症是一种常染色体隐性脂肪酸氧化障碍,其特征是横纹肌溶解、低血糖和心肌病。成年患者的一般治疗方法基于预防分解代谢。高碳水化合物、低脂肪饮食和补充中链甘油三酯是治疗的基础。在这群患者中,关于妊娠随访的经验很少。我们报告了一名 VLCAD 缺乏症患者复杂的围产期病程和成功的管理。尽管开始了高剂量葡萄糖输注,但在产后即刻肌酸激酶水平显著升高,但患者无症状,横纹肌溶解在增加葡萄糖输注率后迅速消退。

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