英国中链酰基辅酶A脱氢酶缺乏症的前瞻性监测研究。
Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK.
作者信息
Pollitt R J, Leonard J V
机构信息
Neonatal Screening Laboratory, Children's Hospital, Sheffield, UK.
出版信息
Arch Dis Child. 1998 Aug;79(2):116-9. doi: 10.1136/adc.79.2.116.
Abstract
BACKGROUND
Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is a common disorder of fatty acid oxidation in north west Europe. It is very variable in its clinical consequences and is believed to be considerably underdiagnosed.
OBJECTIVE
To investigate the diagnosis and outcome of MCAD deficiency in the UK.
METHOD
A prospective surveillance study through the British Paediatric Surveillance Unit.
RESULTS
Of 62 affected individuals identified, 57 were from England, giving an incidence of 4.5 cases/100,000 births. Forty six cases presented with an acute illness (10 of whom died), 13 cases were identified because of family history, and three for other reasons. Six of the survivors were neurologically impaired.
CONCLUSIONS
Despite increased clinical awareness, the mortality and morbidity from MCAD deficiency remain high. The frequency and severity of the disease support the case for the introduction of universal neonatal screening in England and Scotland.
摘要
背景
中链酰基辅酶A脱氢酶（MCAD）缺乏症是西北欧常见的脂肪酸氧化障碍疾病。其临床后果差异很大，且据信诊断严重不足。
目的
调查英国MCAD缺乏症的诊断情况及转归。
方法
通过英国儿科学监测单位进行前瞻性监测研究。
结果
在确诊的62例患者中，57例来自英格兰，发病率为4.5例/10万例出生。46例表现为急性疾病（其中10例死亡），13例因家族史确诊，3例因其他原因确诊。6名幸存者存在神经功能障碍。
结论
尽管临床意识有所提高，但MCAD缺乏症的死亡率和发病率仍然很高。该病的发病率和严重程度支持在英格兰和苏格兰开展新生儿普遍筛查。
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