摘要
目的探讨广州市新生儿先天性甲低、苯丙酮尿症和葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症筛查方法及其对遗传代谢缺陷病的控制作用。方法收集广州市新生儿出生3d时的足跟血滤纸干血斑标本,检测促甲状腺素(TSH)筛查先天性甲状腺功能减低症(CH);检测苯丙氨酸(Phe)检出持续性高苯丙氨酸血症(PHPA),筛查苯丙酮尿症(PKU)和四氢生物蝶呤缺乏症(BH4D);检测红细胞G6PD活性筛查G6PD缺乏症。凡筛查阳性者按疾病诊疗常规进行确诊和治疗,将检出的CH和PHPA作为筛查干预组。将未经过新生儿筛查出现症状才就诊、临床诊断CH和PKU的患儿做为对照组。结果1989年4月至2007年6月共筛查新生儿945372名,检出CH331例,PHPA29例,G6PD缺乏症39700例。结果显示CH发病率为1∶2856,PHPA为1∶32599,G6PD缺乏症达1∶23.81。总发病率为4.24%。CH和PHPA共360例,治疗随访357例,治疗率99.2%。PHPA全部免费治疗。平均开始治疗日龄20d,4～6岁时IQ或0～3岁DQ测定智能正常(IQ或DQ≥90)者320例(89.6%),低于正常(70≤IQ或DQ<90)者36例(10.1%),智能残疾(IQ或DQ<70)者1例(0.3%)。对照组开始治疗年龄平均3岁,智能残疾26例,筛查组的智能发育明显好于对照组。结论新生儿代谢病筛查是遗传代谢缺陷病的一种早期诊断和早期防治方法,对检出的CH、PKU进行早期有效治疗,可保持脑和智能发育正常,预防智能性残疾。
Objective To study the method of newborn screening and its role in early detection of hereditary metabolic diseases. Methods Dried blood spot （DBS） samples, collected on filter paper, were obtained from babies 3 days after birth. The level of stimulate thyroid hormone （TSH） was measured to screen for congenital hypothyroidism （CH）, phenylalanine for persistent high Phenylalaninemia （PHPA）, including Phenylketonuria （PKU） and tetrahydrobiopterin （BH4） deficiency and glucose-6- phosphate dehydrogenases activity was measured to screen for G6PD deficiency. The newborns with posi- tive results of CH and PKU positive results were treated according to the clinical guidelines ; they were included in this study as screening group. The children who had no screening test done with symptoms of CH and PKU were included in control group. Results 945 372 newborns were screened from Apr. 1989 to June. 2007 in Guangzhou. There were 331 cases of CH, 29 cases of PHPA and 39 700 cases of G6PD deficiency. The incidence of CH was 1 in 2 856 newborns, PHPA was 1 in 32 599, G6PD deficiency was 1 in 23.81 ±23.8; total incidence of CH, PHPA and G6PD deficiency was 4. 2%. For the 360 newborns that were positive for CH and PHPA in the screened group, 357 were followed up and their treatment begun at the age of 20 days, the treatment for PHPA was free of charge. It was found that 89. 6% （320/ 357） of them had normal intellectual development （IQ or ID t〉90） during the follow up, 10. 1% （36/ 357 ） slightly lower than normal （ IQ 1〉70 or DQ 〈 90） and 0.30% （ 1/357 ） had disturbance of intelligence （ ID 〈 70 or DQ 〈 70）. For children in the control group, treatment commenced at an average age of 3 years. The intellectual development of newborns in screened group was significantly better than those in control group. Conclusions Newborn screening is a valuable method for early detection and diagnosis and treatment of hereditary metabolic diseases. The newborns with CH and PHPA detected by
出处
《中国新生儿科杂志》
CAS
2008年第2期85-87,共3页
Chinese Journal of Neonatology
