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“肉碱缺乏型”肌病和心肌病,预后致命。

"Carnitine deficient" myopathy and cardiomyopathy with fatal outcome.

作者信息

Cornelio F, Di Donato S, Testa D, Mora M, Gori G, Peluchetti D, Rimoldi M

出版信息

Ital J Neurol Sci. 1980 Mar;1(2):95-100.

PMID:7338455
Abstract

A 13-year-old boy with a mild limb girdle muscular weakness had a massive rhabdomyolysis and cardiac arrest after general anesthesia. A congestive cardiomyopathy then developed. Muscle biopsy revealed an unspecific "myopathic" degeneration of muscle fibers and a slight accumulation of lipid droplets. Carnitine content was markedly reduced in muscle and moderately in plasma. Both prednisone and carnitine therapies were unable to improve the heart insufficiency, and the patient died 1 year after the acute episode of rhabdomyolysis.

摘要

一名患有轻度肢带型肌无力的13岁男孩在全身麻醉后发生了大面积横纹肌溶解和心脏骤停。随后出现了充血性心肌病。肌肉活检显示肌纤维有非特异性的“肌病性”变性以及脂滴轻度积聚。肌肉中的肉碱含量显著降低,血浆中的含量中度降低。泼尼松和肉碱治疗均未能改善心脏功能不全,该患者在横纹肌溶解急性发作1年后死亡。

相似文献

1
"Carnitine deficient" myopathy and cardiomyopathy with fatal outcome.“肉碱缺乏型”肌病和心肌病,预后致命。
Ital J Neurol Sci. 1980 Mar;1(2):95-100.
2
[Lipidic myopathy with severe cardiomyopathy caused by a generalized carnitine deficiency. Favourable course during carnitine hydrochloride treatment].[由全身性肉碱缺乏引起的脂质肌病伴严重心肌病。盐酸肉碱治疗期间病情好转]
Arch Mal Coeur Vaiss. 1979 May;72(5):536-44.
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Myopathies due to enzyme deficiencies.酶缺乏所致的肌病
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本文引用的文献

1
Myoglobinuria.
Med Clin North Am. 1972 Nov;56(6):1233-56. doi: 10.1016/s0025-7125(16)32319-7.
2
A method for the determination of carnitine in the picomole range.一种用于测定皮摩尔范围内肉碱的方法。
Clin Chim Acta. 1972 Mar;37:235-43. doi: 10.1016/0009-8981(72)90438-x.
3
The activities of lipases and carnitine palmitoyltransferase in muscles from vertebrates and invertebrates.脊椎动物和无脊椎动物肌肉中脂肪酶和肉碱棕榈酰转移酶的活性。
Biochem J. 1972 Dec;130(3):697-705. doi: 10.1042/bj1300697.
4
Editorial: Malignant hyperthermia: a pharmacogenetic disease of skeletal and cardiac muscle.社论:恶性高热:一种骨骼肌和心肌的药物遗传学疾病。
N Engl J Med. 1974 May 16;290(20):1140-2. doi: 10.1056/NEJM197405162902012.
5
Rhabdomyolysis and myoglobinuria in childhood.儿童横纹肌溶解症与肌红蛋白尿症
Pediatr Clin North Am. 1976 May;23(2):279-301. doi: 10.1016/s0031-3955(16)33272-2.
6
Weakness associated with the pathological presence of lipid in skeletal muscle: a detailed study of a patient with carnitine deficiencey.与骨骼肌中脂质的病理存在相关的肌无力:对一名肉碱缺乏患者的详细研究。
J Neurol Neurosurg Psychiatry. 1976 Nov;39(11):1114-23. doi: 10.1136/jnnp.39.11.1114.
7
Carnitine deficiency of skeletal muscle: report of a treated case.骨骼肌肉碱缺乏症:一例治疗病例报告。
Neurology. 1976 Jul;26(7):633-7. doi: 10.1212/wnl.26.7.633.
8
Deficiency of carnitine in cachectic cirrhotic patients.恶病质肝硬化患者的肉碱缺乏症。
J Clin Invest. 1977 Sep;60(3):716-23. doi: 10.1172/JCI108824.
9
Carnitine deficiency: clinical, morphological, and biochemical observations in a fatal case.
J Neurol Neurosurg Psychiatry. 1977 Apr;40(4):313-22. doi: 10.1136/jnnp.40.4.313.
10
Rhabdomyolysis induced by anaesthesia with intraoperative cardiac arrest.术中心脏骤停麻醉诱导的横纹肌溶解症
Br J Anaesth. 1977 May;49(5):495-9. doi: 10.1093/bja/49.5.495.