Anandarajan Mugilan, Paulraj Sunil, Tubman Richard
Royal Jubilee Maternity Hospital, Belfast HSC Trust Belfast, BT12 6BB, United Kingdom.
Ulster Med J. 2009 Jan;78(1):51-2.
Respiratory Distress Syndrome (RDS) is due to deficiency of surfactant and commonly occurs in preterm babies. We report the first confirmed case in Northern Ireland of ABCA3 transporter deficiency which is a rare but important cause of RDS in term babies.A 38 week gestation female infant developed respiratory distress at four hours of age. Chest radiography was consistent with RDS. The baby required repeated doses of surfactant, each resulting in transient periods of decreased ventilatory requirement and improvement in blood gases, but unfortunately she did not survive.DNA sequencing demonstrated two different mutations in the ABCA3 gene, one inherited from each parent. The baby was therefore a compound heterozygote, and both mutations were thought to be functionally significant.ABCA3 transporter deficiency is a genetic disorder that is increasingly recognized as a cause of RDS in term babies in whom congenital deficiency of surfactant B and abnormalities of surfactant protein C have been excluded. It should be considered in mature babies who develop severe RDS.
呼吸窘迫综合征（RDS）是由于表面活性剂缺乏引起的，常见于早产儿。我们报告了北爱尔兰首例经证实的ABCA3转运蛋白缺乏病例，这是足月儿RDS的一种罕见但重要的病因。一名孕38周的女婴在出生4小时后出现呼吸窘迫。胸部X线检查结果与RDS相符。该婴儿需要反复使用表面活性剂，每次使用后通气需求短暂下降，血气指标有所改善，但不幸的是，她最终未能存活。DNA测序显示ABCA3基因存在两种不同的突变，分别来自父母双方。因此，该婴儿为复合杂合子，且两种突变均被认为具有功能意义。ABCA3转运蛋白缺乏是一种遗传性疾病，越来越多地被认为是足月儿RDS的病因，此类足月儿已排除表面活性物质B先天性缺乏和表面活性蛋白C异常的情况。对于出现严重RDS的成熟婴儿，应考虑这一病因。
