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中链酰基辅酶A脱氢酶缺乏症的新生儿症状。

Neonatal symptoms in medium chain acyl coenzyme A dehydrogenase deficiency.

作者信息

Wilcken B, Carpenter K H, Hammond J

机构信息

Children's Hospital, Sydney, Australia.

出版信息

Arch Dis Child. 1993 Sep;69(3 Spec No):292-4. doi: 10.1136/adc.69.3_spec_no.292.

Abstract

Medium chain acyl coenzyme A dehydrogenase (MCAD) deficiency has not been thought to be associated with significant neonatal symptoms. To determine the validity of this, all known MCAD cases from New South Wales were reassessed. A total of 16 confirmed and three presumed cases has been identified in New South Wales, from 15 families. The casenotes of patients were reviewed, and where possible the mothers interviewed, either directly or by telephone, to obtain information about neonatal events. Six of the 16 confirmed cases had significant neonatal symptoms, with onset from 17 hours to 3 days of age. All required intravenous dextrose and four of the six needed other interventions, including hospital transfer. One baby died. All six were breast fed, but so were five of the eight asymptomatic neonates for whom information was available. Four of the six symptomatic neonates were homozygous for the common MCAD mutation, an A to G transition at position 985, and one was heterozygous. It is concluded that serious neonatal symptoms are common in MCAD. Newborn siblings of MCAD cases must have careful monitoring and support during the first few days of life.

摘要

中链酰基辅酶A脱氢酶(MCAD)缺乏症一直被认为与严重的新生儿症状无关。为了确定这一观点的正确性,对新南威尔士州所有已知的MCAD病例进行了重新评估。新南威尔士州共确定了16例确诊病例和3例疑似病例,来自15个家庭。对患者的病历进行了审查,并尽可能直接或通过电话采访母亲,以获取有关新生儿事件的信息。16例确诊病例中有6例出现了严重的新生儿症状,发病时间为出生后17小时至3天。所有患儿均需要静脉输注葡萄糖,其中6例中有4例需要其他干预措施,包括转院。1名婴儿死亡。所有6例均为母乳喂养,但在有信息可查的8例无症状新生儿中,也有5例是母乳喂养。6例有症状的新生儿中有4例为常见MCAD突变的纯合子,即第985位由A突变为G,1例为杂合子。结论是,严重的新生儿症状在MCAD中很常见。MCAD病例的新生儿同胞在出生后的头几天必须接受仔细监测和支持。

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