论文部分内容阅读
目的 对 76 9例高苯丙氨酸血症 (HPA)患者进行诊治随访和基因检测。方法 对 76 9例 (新生儿筛查获诊 95例 ,高危筛查获诊 5 0例 ,非筛查获诊 6 2 4例 )患者进行家族史调查 ;采用Guthrie细菌抑制法或定量荧光检测法进行血苯丙氨酸浓度测定 ;采用尿蝶呤分析进行四氢生物蝶呤缺乏症(BH4D)鉴别诊断 ;采用低或无苯丙氨酸奶粉对苯丙酮尿症 (PKU)患者进行治疗 ;评价各型HPA临床疗效 ;应用变性梯度凝胶电泳 (DGGE)及微卫星连锁分析等方法 ,对 10 0例经典型PKU患者进行PKU致病基因突变检测 ;对 2 3个PKU高危家庭进行产前诊断。结果 (1) 76 9例中 730例为经典型PKU ,2 7例轻型HPA ,12例BH4D。 (2 ) 338例接受了低 /无苯丙氨酸奶粉治疗 ,治疗期间血苯丙氨酸浓度控制达良好和一般的 ,95例新生儿筛查获诊者中占 71 6 % ,非筛查获诊的 2 4 3例中占 5 4 7%。 (3)对治疗者中 112例进行智能测定 ,5 5例经筛查获诊者的智商 (IQ)为 (78± 2 2 )分 ,5 7例非筛查获诊者的IQ为 (6 2± 18)分 ,两组IQ差异有显著意义 (P <0 0 0 1) ;5例接受治疗的BH4D者IQ 70～ 80分。 (4) 72例正常入学者 ,6 6 7%患者学习成绩达中等或以上。 (5 )在 10 0例经典型PKU中发现 5种基因突变(Arg111Ter、Arg2 4 1Cys、Arg2 4 3Glu、IVS6nt
Objective To investigate the follow-up and genetic testing of 769 patients with hyperphenylalaninemia (HPA). Methods A total of 769 patients (95 newborns, 95 high risk patients, and 624 nonspecific patients) were enrolled in this study. Family history was tested by Guthrie bacterial inhibition assay or quantitative fluorometry Blood phenylalanine concentrations were determined; differential diagnosis of tetrahydrobiopterin deficiency (BH4D) was determined using urinary pylori analysis; patients with phenylketonuria (PKU) were treated with low or no phenylalanine milk powder; evaluation The clinical efficacy of various types of HPA was evaluated. PKU pathogenic mutation was detected in 10 0 PKU patients by denaturing gradient gel electrophoresis (DGGE) and microsatellite linkage analysis. Prenatal diagnosis of 23 high-risk families of PKU . Results (1) Of the 769 patients, 730 were classic PKU, 27 were light HPA and 12 were BH4D. (2) Of the 338 patients who received low / no phenylalanine milk powder therapy, blood phenylalanine concentrations were well controlled during the treatment period, and 71.6% of 95 neonates were non-screened Out of 243 cases admitted, 54.7% were found. (3) The intelligence of 112 patients in the treatment was measured. The IQ of the 5 5 screening patients was (78 ± 22) points. The IQ of 57 non-screening patients was (6 2 ± 18) points, IQ difference between the two groups was significant (P <0.01); (4) 72 normal students, 66.7% of patients with medium grade or above. (5) Five mutations were found in 100 classical PKU (Arg111Ter, Arg2 4 1Cys, Arg2 4 3Glu, IVS6nt