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首页> 中文期刊> 《中国循证儿科杂志》 >儿童扩张性心肌病伴脂肪酸氧化代谢异常9例

儿童扩张性心肌病伴脂肪酸氧化代谢异常9例

         
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摘要

Objectives To study the clinical manifestations, diagnosis and treatment of dilated cardiomyopathy with abnormal fatty acid metabolism in children. Methods The clinical manifestations, laboratory examinations, treatment and follow-up evaluation of children identified as dilated cardiomyopathy with abnormal fatty acid metabolism at Beijing Anzhen Hospital from January 2007 to June 2011 were retrospectively reviewed. Results Nine children were enrolled, including 5 males and 4 females, onset age ranging from 11 months to 18 years, course of disease from 0. 5 to 4. 5 years. Nine cases were all fatigued with one or more symptoms as muscle weakness ( 4 cases ), limb proximal muscle atrophy ( 1 case ), seizures ( 2 cases ) and growth retardation ( 2 cases ). Nine cases were all found with varying degrees of hepatomegaly accompanied by liver dysfunction ( 8 cases ), elevated CK, CK-MB, increased lactate dehydrogenase ( LDH ) ( 7 cases ), elevated lactic acid( 6 cases ), hypoglycemia ( 2 cases ), high blood ammonia ( 3 cases ). Increased left ventricular end-diastolic diameter and decreased ejection fraction were measured by echocardiography in cases. Two cases showed myogenic damage by electromyography. Tandem mass spectrometry examination revealed that free carnitine was significantly higher in 1 case, normal in 3 cases while decreased in 5 cases; acylcarnitine increased in 7 cases, decreased in 1 case, normal in 1 case. The primary clinical diagnosis was carnitine palmitoyltransferase I deficiency in 1 patient, systemic carnitine deficiency in 1 patient, multiple acyl-CoA dehydrogenase deficiency in 4 patients, long-chain acyl-CoA dehydrogenase deficiency in 3 patients. Based on conventional treatment of heart failure to all patients, supplement of L-carnitine and vitamin, dietary guidance including low-fat and preventing from starvation achieved better clinical, biochemical, cardiac imaging and function improvement. Conclusions Metabolic screening should be performed in children with cardiomyopathy suspectedly secondary to fatty acid oxidation disorder. This may help define early diagnosis, therapeutic strategyand improve the prognosis.%目的 探讨儿童扩张性心肌病伴脂肪酸氧化代谢异常的临床特征、诊断与治疗.方法 回顾性分析2007年1月至2011年6月在首都医科大学附属北京安贞医院诊断为扩张性心肌病伴脂肪酸氧化代谢异常患儿的临床特征、实验室检查、治疗和随访情况.结果 9例扩张性心肌病伴脂肪酸氧化代谢异常患儿进入分析,男5例,女4例.病程0.5～4.5年,起病年龄11个月至18岁.9例均有乏力表现,4例合并肌肉无力,1例四肢近端肌萎缩,2例有惊厥发作,2例伴生长发育落后.9例均有不同程度肝肿大,8例肝功能异常,7例CK、CK-MB和乳酸脱氢酶增高,6例乳酸增高,2例低血糖,3例高血氨.9例超声心动图检查均可见左心室舒张末期内径增高和射血分数下降.肌电图示肌源性损害2例.串联质谱检查示游离肉碱明显增高1例,减少5例,正常3例;酯酰肉碱增高7例,减少1例,正常1例.临床诊断肉毒碱棕榈酰转移酶Ⅰ缺乏症1例,原发性肉碱缺乏症1例,多种酰基辅酶A脱氢酶缺乏4例,长链酰基辅酶A脱氢酶缺乏3例.9例在常规抗心力衰竭治疗基础上,补充左旋肉碱、维生素及低脂肪、预防饥饿等饮食指导.随访0.5～3年,临床症状、生化指标和超声心动图表现逐渐改善.结论 原因不明的心脏扩大合并多系统症状和生化指标异常者,应考虑到脂肪酸代谢异常可能,及早进行代谢病筛查,早期诊断和合理治疗是改善预后的关键.

著录项

  • 来源
    《中国循证儿科杂志》 |2012年第2期|124-127|共4页
  • 作者

    崇梅; 韩玲; 杜军保; 金梅; 王霄芳; 郑可; 梁永梅; 肖燕燕; 焦萌;

  • 作者单位

    首都医科大学附属北京安贞医院儿童心脏科,北京,100029;

    首都医科大学附属北京安贞医院儿童心脏科,北京,100029;

    北京大学第一医院儿科,北京,100020;

    首都医科大学附属北京安贞医院儿童心脏科,北京,100029;

    首都医科大学附属北京安贞医院儿童心脏科,北京,100029;

    首都医科大学附属北京安贞医院儿童心脏科,北京,100029;

    首都医科大学附属北京安贞医院儿童心脏科,北京,100029;

    首都医科大学附属北京安贞医院儿童心脏科,北京,100029;

    首都医科大学附属北京安贞医院儿童心脏科,北京,100029;

  • 原文格式 PDF
  • 正文语种 chi
  • 中图分类
  • 关键词

    脂肪酸; 氧化; 代谢; 心肌病; 肉碱; 酰基肉碱;

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