摘要
目的1066例高苯丙氨酸血症（HPA）患者治疗随访。方法自1984年10月到2009年12月，我院共诊治HPA患者1066例。采用高效液相色谱法进行尿喋呤分析，血红细胞二氢喋啶还原酶（DHPR）活性测定及四氢生物喋呤（BH4）负荷试验，进行四氢生物喋呤缺乏症（BH。D）的鉴别；对部分患者进行MRI、1HMRS检查；对不同类型的HPA进行治疗。结果（1）1066例中1016例为苯丙氨酸羟化酶缺乏症（PAHD），其中51例为BH4反应性PAHD；50例为BH4Dc（2）28例筛查早治的BH4D患儿智商为（96±15）分，晚治疗的11例患儿治疗前为（46±15）分，治疗后为（69±11）分，前后有显著意义（P〈0．05）。DQ／IQ水平与治疗开始时间呈明显的负相关（r=-0．714，P〈0．01）。（3）33例BH4反应性PAHD患儿的智商为（92±18）分。（4）PAHD患者治疗中筛查组智商与非筛查组智商比较，筛查治疗理想组智商与筛查治疗不理想组智商比较，非筛查治疗理想组智商与非筛查治疗不理想组智商比较均有意义（P〈0．001），47例非新筛并控制理想血Phe浓度PKU患儿智商从治疗前的（60．66±7．78）分，提高到治疗后的（76．62±7．55）分（P〈0．001）。（5）合并癫痫的患儿脑电图的异常率为94．3％，将血苯丙氨酸浓度控制在理想范围，可使脑电图异常有改善。（6）22例大于4个月的患儿血、脑Phe浓度与智商均呈负相关关系r血=-0．5045，r脑=-0．6471（P〈0．01）。结论对所有HPA患者都必须进行BH4D的鉴别诊断，尽早确诊和治疗效果越好。严格控制血苯丙氨酸浓度是减少智能落后的最好措施。
Objective： The follow- up study of 1066 patients of hyperphenylalaminemia （HPA）. Methods： From October, 1984 to December, 2009, a total of 1066 patients with HPA were diagnosed and/or treated in our outpatient department. Urinary pterin a- nalysis by HPLC, detection of dihydropteridine reductase （DHPR） activity in blood, and BH4 loding tests were done to differentiate BH4 deficiency in these patients from phenylketonuria. MRI, 1HMRS and were performed in parts of these patients. Dietary treatments were given in PKU patients And drug treatments were done in BH4D patients respectively. Resuhs ： （ 1 ） Of 1066 patients 1016 cases were diagnosed as PAHD, and of which 51 cases were diagnosed as BH4 -responsive PAHD and 50 cases were diagnosed as BH4D. （2） The DQ of the 28 BH4D patients who were treated early after the neonatal screening were 96 ± 15. The DQ of 11 BH4D patients who were treated later were 46 ± 15 and 69 ± 11, before and after treatment respectively. Compared with that before treatment, the DQ was significantly increased after treatment （P 〈 0. 05 ） . A significant negative correlation was observed between the level of the DQ and the age of treatment commenced （ r = - 0. 714, P 〈 0. 01 ）. （3） The DQ of the 33 BH4 - resposive PAHD patients after the neo- natal screening were 92 ± 18. （4） The DQ of the neonatal screening group and the non - neonatal screening group were significantly different （ P 〈 0. 01 ）. In the neonatal screening group, the DQ of ideally - treated patients were significantly different from that of less ideally treated patients （P 〈 0. 01 ）. In the non - neonatal screening group, the DQ of the ideally treated patients were significantly different from that of less ideally treated patients （ P 〈 0. 01 ）. The DQ of 47 PKU patients who were treated later and whose blood phenylalanine concentrations were better controlled were 60. 66 ± 7. 78 and 76. 62 ± 7. 55, before and after treatment respectively. Af- ter treatment, the D
出处
《中国优生与遗传杂志》
2011年第9期33-35,78,共4页
Chinese Journal of Birth Health & Heredity
基金
基金项目：国家自然科学基金（30271372）
关键词
高苯丙氨酸血症
新生儿筛查
饮食治疗
Hyperphenylalaninemia
Neonatal screening
Dietary treatmen
