Badawi N, Cahalane S F, McDonald M, Mulhair P, Begi B, O'Donohue A, Naughten E
Children's Hospital, Dublin.
Ir Med J. 1996 Jan-Feb;89(1):16-7.
We reviewed 20 years (from 1972 to 1992) of screening for galactosaemia in Ireland. We looked at a small group of 32 patients followed up in the same centre since diagnosis. 1.2 million babies have been screened with 55 cases of classical galactosaemia and 7 Duarte Variants being detected. The frequency is thus, 1:23,000 and is increased among itinerants to 1:700. The mean age of diagnosis was 6.9 days with 41/62 cases symptomatic at the time. There were 9 deaths, 8 in the first 10 years, six of whom were itinerants. On follow up of the 32 children, who have attended Temple Street Hospital, 13/32 have no detectable complication. Nineteen show either one or a combination of cataracts, speech problems, tremors, abnormal FSH and or LH, delayed mental development and recurring infections. The screening test is the Bacterial Inhibition Assay with Beutler test, an original blood spot as confirmation in presumptive possible cases. The Beutler test is performed urgently in high risk situations. Five classical galactosaemics gave false negative results, 3 because of poor feeding, and two because of soya milk formulas. Screening prevented deaths as 7/84 siblings of our cases were unexpected infant deaths, all but one predating screening. Unexplained delay in screening undermines its effectiveness. Survival is enhanced by aggressive neonatal care. Symptoms are improved on commencing diet, with cataracts regressing. Complications did not correlate with the day of starting diet. Galactose-1-Phosphate and urinary galactitol levels did not correlate with complications, but slit lamp examination has proved a helpful index of adherence to diet. The mechanism of complications is unclear, and it is essential that current research should be aggressively pursued to explain mental deficiency in cases treated either pre-natally or early in post natal life.
我们回顾了爱尔兰20年（从1972年至1992年）的半乳糖血症筛查情况。我们研究了自诊断以来在同一中心随访的一小群32名患者。120万婴儿接受了筛查，检测出55例典型半乳糖血症和7例杜阿尔特变异型。因此，发病率为1:23,000，在流动人员中增至1:700。诊断的平均年龄为6.9天，62例中有41例当时有症状。有9例死亡，8例在前10年，其中6例是流动人员。在对曾就诊于坦普尔街医院的32名儿童进行随访时，32名中有13名未发现并发症。19名表现出白内障、言语问题、震颤、促卵泡生成素和/或促黄体生成素异常、智力发育迟缓以及反复感染中的一种或多种组合。筛查试验是细菌抑制试验和博伊特勒试验，在疑似可能病例中用原始血斑作为确认。在高危情况下紧急进行博伊特勒试验。5例典型半乳糖血症患者出现假阴性结果，3例是因为喂养不良，2例是因为食用豆奶配方奶粉。筛查预防了死亡，因为我们病例中的84名兄弟姐妹中有7名是意外婴儿死亡，除1例之外均在筛查之前。筛查中无法解释的延迟会削弱其有效性。积极的新生儿护理可提高存活率。开始饮食后症状有所改善，白内障消退。并发症与开始饮食的日期无关。1-磷酸半乳糖和尿半乳糖醇水平与并发症无关，但裂隙灯检查已证明是饮食依从性的一个有用指标。并发症的机制尚不清楚，必须积极开展当前的研究以解释在产前或出生后早期接受治疗的病例中的智力缺陷问题。
