摘要
目的探讨苯丙酮尿症（phenylketonuria，PKU）患儿的治疗效果。方法2004年6月1日至2013年9月30日，山西省新生儿疾病筛查中心共筛查777088例新生儿，确诊166例PKU，其中97例接受低苯丙氨酸饮食治疗者纳入分析。治疗期间，定期监测患儿血苯丙氨酸浓度，计算血苯丙氨酸浓度控制在理想水平的次数占监测次数的百分率。患儿在首诊、6月龄及每个整岁时检测体格及智力发育情况。患儿6月龄及每个整岁时检测血常规、血锌和血铜，超声检测骨强度，了解患儿营养状况。取最近一次监测结果分析患儿的体格、智力发育及微量营养素缺乏情况。统计学方法采用两独立样本t检验、秩和检验、χ2检验和Pearson相关性分析。结果97例患儿中男性52例，女性45例，确诊PKU的中位年龄为24d（8～72d）。轻度PKU35例，经典型PKU62例。开始治疗的中位年龄为32d（14d-18个月）。末次随访中位年龄为2岁（6个月～8岁7个月）。97％（94／97）的患儿体格发育正常，87％（84／97）的患儿智力发育正常。92例患儿于3月龄前开始治疗，平均发育商或智商高于3月龄后开始治疗的5例患儿[（92±13）与（79±22）分，t=2．210，P=0．030]。73％（49／67）的患儿锌缺乏，2％（1／60）铜缺乏，3％（3／88）发生营养性贫血，27％（25／92）骨强度不足。97例患儿监测血苯丙氨酸浓度的中位次数为27次（6～56次），控制在理想水平的中位百分率为57％（0-89％）。智力发育正常的84例患儿血苯丙氨酸浓度控制在理想水平的百分率高于智力异常的13例患儿[59％（0-89％）与43％（0～85％），Z=-1．965，P=0．0491。智力发育水平与患儿开始治疗年龄呈负相关（r=-0．330，P=0．001），与血苯丙氨酸浓度控制在理想水平的百分率呈正相关（r=0．304，P=0．002）。结论PKU患儿接受规范治疗后，体格及智力发育水平可基本达到正常水平，且越早治疗效果越好。但须关注治疗期间微量营养素缺乏症的防治。
Objective To summarize the therapeutic effects in patients with phenylketonuria （PKU）. Methods From January 1, 2004 to September 30, 2013, 166 of 777 088 children were diagnosed with PKU in the Maternal and Child Health Hospital of Shanxi Province （Neonatal Screening Centre of Shanxi Province）, China, and 97 children treated with a low phenylalanine diet were enrolled. Blood concentrations of phenylalanine were monitored and the percentage of normal phenylalanine （times with normal phenylalanine/ times with phenylalanine monitoring） was calculated. The physical and mental development of the children was assessed at first attending, at six months old and annually thereafter. Blood concentrations of zinc, copper and hemoglobin were measured at six months old and annually thereafter. Bone density was measured by ultrasound at the same time. The last test results were analyzed using a two independent sample-t test, sum-rank test, Chisquare test and Pearson correlation analysis. Results Of 97 PKU children, 45 were female and 52 were male with a median diagnosis time of 24 d （8-72 d）, respectively. There were 35 cases of mild PKU and the remaining 62 cases were classic PKU. The median age at the start of treatment was 32 d （14 d-18 months）. The median age at last follow-up was two years （six months to eight years and seven months）. Finally, 97% （94/97） of cases had normal physical development and 87% （84/97） had normal mental development, The development quotient or intelligence quotient of 92 children who began treatment before three months of age was higher than the other five children who were treated after three months of age （92± 13 vs 79±22, t=2.210, P=0.030）. Among the PKU children who tested the relative items, 73% （49/67） of children suffered from zinc deficiency, 2% （1/60） had copper deficiency, 3% （3/88） had anemia and 27% （25/92） had bone density deficiency. Phenylalanine was monitored 27 times （6 to 56 times）, and the median percentage of normal phenylalanine was 57%（0~89%）. The percentage of normal phenylalanine in 84 cases with normal mental development was higher than in 13 cases with abnormal mental development [59% （0-89%） vs 43%（0-85%）, Z= - 1.965, P=0.049]. Mental development was negatively correlated with age at the start of treatment （r= - 0.330, P=0.001）, and positively correlated with the percentage of normal phenylalanine （r=0.304, P=0.002）. Conclusions The physical and mental development of PKU children may be normal after treatment, especially after early treatment. However, more attention should be paid to deficiencies in micronutrients.
出处
《中华围产医学杂志》
CAS
CSCD
2015年第3期200-203,共4页
Chinese Journal of Perinatal Medicine
基金
山西省卫生和计划生育委员会科研课题（2014059）
关键词
苯丙酮尿症
新生儿筛查
智力
Phenylketonurias
Neonatal screening
Intelligence
