Malone John I, Diaz-Thomas Alicia, Swan Kathleen
Department of Pediatrics, University of South Florida, Tampa, Florida, USA.
BMJ Case Rep. 2011 Jun 3;2011:bcr0120113769. doi: 10.1136/bcr.01.2011.3769.
The new born screen should identify asymptomatic children with a devastating disorder before the damage has occurred. One family had two children born with classical galactosaemia. The first child, subject to a flaw in the newborn screening program, was not detected, went into rapid liver failure and ultimately had a liver transplant. The second child was following the same devastating course when identified by the new born screen with reduced galactose-1-phosphate uridyl transferase activity in a blood spot. The rapid response of the second child to removal of lactose and galactose from the diet resulted in significant clinical improvement. If the screening test for an inborn genetic defect involves the measurement of enzyme activity in red blood cells, be sure the patient has only native red blood cells. The events leading to the failure of the galactosaemia screening test are reviewed, so physicians will be aware and avoid this problem.
新生儿筛查应在损害发生前识别出患有严重疾病的无症状儿童。有一个家庭的两个孩子都患了典型的半乳糖血症。第一个孩子由于新生儿筛查程序存在缺陷而未被检测出来，迅速出现肝衰竭，最终进行了肝移植。第二个孩子在新生儿筛查中被发现血斑中1-磷酸半乳糖尿苷转移酶活性降低时，也正沿着同样的严重病程发展。第二个孩子在饮食中去除乳糖和半乳糖后迅速出现反应，临床症状得到显著改善。如果针对先天性遗传缺陷的筛查测试涉及测量红细胞中的酶活性，要确保患者只有天然红细胞。本文回顾了导致半乳糖血症筛查测试失败的事件，以便医生能够意识到并避免这个问题。
