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目的应用MRI观察苯丙酮尿症(PKU)患儿脑髓鞘发育延迟与血苯丙氨酸(PHE)浓度的关系。方法对2002—2004年北京中日友好医院PKU门诊确诊的经典型PKU患儿29例,治疗前进行头颅MRI及血苯丙氨酸浓度检查,脑髓鞘发育按Staudt标准对不同年龄阶段患儿脑10个区域进行量化评估。HPLC法定量测定血PHE浓度。根据开始接受治疗年龄不同分为甲(28~48周,11例)、乙(49~390周,18例)两组,另随机选取其中19例治疗1年后复查MRI进行治疗前后对照,根据该19例治疗中血苯丙氨酸浓度控制情况分为A组(血PHE控制在0.12~0.48mmol/L)和B组(血PHE控制在0.12~0.48mmol/L以外)。结果29例患儿治疗前均存在髓鞘发育延迟,在10个脑区域髓鞘发育延迟平均发生率为45.6%,主要部位在脑叶和胼胝体,其中甲组髓鞘发育延迟平均发生率为40.8%,乙组发生率为51.2%,甲乙组间差异有显著性意义(P<0.05);经低苯丙氨酸饮食治疗1年后,19例10个脑区域髓鞘发育延迟平均发生率为32.2%;治疗前后髓鞘延迟有显著性改善(P<0.01),且治疗中血PHE浓度控制较好的A组髓鞘延迟改善率为1.75±0.66,B组病例为0.78±0.44,差异有显著性(P<0.01),髓鞘延迟改善与血PHE浓度间有密切相关性。结论治疗延迟的PKU患儿的脑髓鞘发育延迟的高发病率,与高血PHE浓度影响时间有关;经低苯丙氨酸饮食治疗延迟的改善率,与治疗中血PHE浓度控制情况直接影响延迟改善,因此提示PKU患儿血PHE浓度是影响脑髓鞘发育延迟发生及改善的重要原因。
Objective To observe the relationship between the delayed development of myelin sheath and the concentration of plasma phenylalanine (PHE) in children with phenylketonuria (PKU) using MRI. Methods Twenty-nine patients with classical PKU diagnosed at PKU clinic of Beijing Sino-Japanese Friendship Hospital in Beijing from 2002 to 2004 were examined with cranial MRI and blood phenylalanine concentration before treatment. According to Staudt criteria, 10 regions for quantitative assessment. HPLC quantitative determination of blood PHE concentration. According to the age at the beginning of treatment, patients were divided into A (28-48 weeks, 11 cases), B (49-390 weeks, 18 cases), and another 19 cases were randomly selected. The MRI was reviewed before and after treatment for 1 year The control of blood phenylalanine concentration in the 19 cases was divided into group A (PHE control between 0.12 and 0.48 mmol / L) and group B (PHE control between 0.12 and 0.48 mmol / L). Results All of the 29 children had delayed development of myelin before treatment. The average incidence of delayed development of myelin was 45.6% in 10 brain regions. The main sites were in lobar and corpus callosum. The average delayed development of myelin in group A was 40.8 %, The incidence of group B was 51.2%, the difference between group A and group B was significant (P <0.05). After 1 year of treatment with low phenylalanine diet, the average incidence of delayed development of myelin in 19 cases was 32.2%. Myelination delay was significantly improved before and after treatment (P <0.01). The improvement rate of myelin delay in group A was 1.75 ± 0.66, and the group B was 0.78 ± 0.44 Significance (P <0.01), improvement of myelin delay and blood PHE concentration are closely related. Conclusions The high incidence of delayed development of myelin sheath development in PKU children with delayed treatment is related to the effect of high blood PHE concentration. The improvement rate of delayed treatment with low phenylalanine diet is directly related to the delay in the control of PHE concentration in treatment Therefore, it is suggested that the blood PHE concentration in children with PKU is an important reason that affects the occurrence and the improvement of delayed development of myelin sheath.