论文部分内容阅读
目的探讨不同年龄苯丙酮尿症的饮食治疗及康复治疗的方法。方法对1998年4月～2009年12月确诊的43例PKU进行饮食治疗及康复训练,其中新筛患儿8例。漏筛患儿35例。经典型34例,BH4缺乏型1例。结果治疗期间用体格指数评价及Gesell发育量表测定智商。经新筛8例,早期发现并早期治疗后患儿身高、体质量和头围均在正常范围,智商为(91±12)分。漏筛患儿坚持治疗28例,其中10例治疗前Gesell发育量表测定智商平均(51±18)分,治疗12～18个月,智商平均(70±15)分,治疗前后智商比较差异显著(t=1.705 P<0.05)。结论进行新生儿筛查,早期诊断,早期饮食治疗是关键,开始治疗的年龄越小,预后越好,智商也越高。正确的指导,家长的配合是保证疗效的重要措施。
Objective To investigate dietary therapy and rehabilitation therapy of phenylketonuria at different ages. Methods 43 cases of PKU diagnosed from April 1998 to December 2009 were treated with diet and rehabilitation training, of which 8 were newly screened. Thirty-five children missed the screen. 34 cases of classic, BH4-deficient in 1 case. Results IQ was measured by using physical index and Gesell developmental scale during treatment. The new screen in 8 cases, early detection and early treatment of children with height, body mass and head circumference are in the normal range, IQ (91 ± 12) points. There were 28 cases of children who missed the screening test. Among them, 10 cases had an average IQ of 51 ± 18 before Gesell development scale, 12 to 18 months for treatment and 70 ± 15 for IQ. There was significant difference in IQ between before and after treatment (t = 1.705 P <0.05). Conclusion Neonatal screening, early diagnosis and early diet are the key points. The younger the age of onset of treatment, the better the prognosis and the higher IQ. Proper guidance, parental cooperation is an important measure to ensure efficacy.