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目的通过对石家庄市74例低苯丙氨酸饮食治疗的苯丙酮尿症患儿,监测血苯丙氨酸,选用Gesell发育量表进行智能发育评估,总结分析饮食治疗干预效果。方法确诊的74例苯丙酮尿症患儿中59例给予低苯丙氨酸饮食治疗,其中48例经新生儿疾病筛查,治疗起始年龄在3个月内,11例未接受新生儿疾病筛查,出现症状而就诊,治疗起始年龄8个月至27月,15例因各种原因放弃治疗给予正常饮食。通过对74例患儿定期随访,监测血苯丙氨酸浓度、智能发育水平,进行调查结果总结分析。结果通过新生儿疾病筛查,治疗起始年龄<3个月的PKU患儿,智能发育水平达到正常水平(98.62±3.61),因未接受新生儿疾病筛查而延迟治疗的11例PKU患儿,智能发育水平治疗前后对比差异有统计学意义(P<0.05),放弃治疗给予普通饮食的15例PKU患儿,智能发育水平明显落后于两组干预治疗的患儿。结论开展新生儿疾病筛查是早期发现PKU的有效途径,通过低苯丙氨酸饮食干预治疗,可以明显改善预后,避免患儿智能低下的发生,达到降低出生缺陷的目的。
Objective To monitor the blood phenylalanine in 74 children with phenylketonuria who were treated with low phenylalanine diet in Shijiazhuang City. The Gesell developmental scale was used to assess the intelligence development and to summarize the effect of diet therapy intervention. Methods: A total of 74 children with phenylketonuria diagnosed by the method were treated with low phenylalanine diet, 48 of whom were screened for neonatal disease. The initial treatment was within 3 months and 11 did not receive neonatal disease Screening, symptoms and treatment, treatment of the initial age of 8 months to 27 months, 15 patients give up treatment due to various reasons to give a normal diet. 74 cases of children were followed up regularly to monitor the concentration of blood phenylalanine, the level of intelligence development, the survey results were analyzed. Results In neonates with PKU, the level of mental development reached a normal level (98.62 ± 3.61) in children with PKU who started treatment for less than 3 months, and 11 children with PKU who had been delayed in screening for neonatal disease (P <0.05). Fifteen PKU children who gave up the general diet were given up their intelligence development level lagging behind those of the two intervention groups. Conclusion Neonatal screening is an effective way to detect PKU in the early stage. By treating with low phenylalanine diet, the prognosis can be obviously improved, and the occurrence of mental retardation can be avoided and the birth defects can be reduced.