氢质子磁共振波谱在高苯丙氨酸血症患儿脑苯丙氨酸浓度测量的临床意义  

Quantification of phenylalanine in the brain of patients with hyperphenylalaninemia by ^1H magnetic resonance spectroscopy

作　　者：王琨蒂[1] 周忠蜀[1] 沈明[1] 洪闻[2] 喻唯民[3] 

机构地区：[1]中日友好医院儿科,北京100029 [2]中日友好医院放射科,北京100029 [3]中日友好医院临床研究所,北京100029

出　　处：《中华儿科杂志》2009年第2期119-123,共5页Chinese Journal of Pediatrics

摘　　要：目的应用氢质子磁共振波谱（^1HMRS）检测高苯丙氨酸血症（HPA）患儿的脑苯丙氨酸（Phe）浓度，了解血Phe与脑Phe的关系和Phe对HPA患儿智力损伤的影响，探讨^1HMRS的临床应用价值和意义。方法32例未经治疗的HPA患儿，男18例，女14例，年龄33d-13岁。全部患儿进行^1HMRS检查，测量脑Phe浓度，并行血Phe浓度测定、智力评估。结果（1）32例HPA患儿脑Phe浓度（以Phe／Cr的比值表示）为0．1542（0．0640～0．6296），血Phe浓度为1．5210（0．3804—2．5140）mmol／L。（2）HPA患儿的血Phe浓度与脑Phe浓度总体呈正相关关系（r=0．6103，P〈0．01），4例患儿相关性较低。（3）32例中23例存在不同程度的智能发育障碍，其中极重度智能障碍4例、重度2例、中度7例、轻度10例。（4）22例大于4个月患儿血、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）。多元线性回归见脑Phe浓度较血浓度与智商的关系更紧密。结论多数HPA患儿的血Phe浓度可以较好地反映脑Phe的浓度水平，少数存在较明显的个体差异性；大于4个月的HPA患儿血、脑Phe浓度可较好地反映智力损伤的程度，脑浓度的相关性更强。应用^1HMRS可无创、定量检测HPA患者脑内Phe浓度，可进一步了解HPA患儿脑损伤程度。Objective Hyperphenylalaninemia （HPA） is an inborn error of metabolism in which the hydroxylation of phenylalanine （Phe） to tyrosine is disturbed. Accumulation of Phe leads to severe mental and psychomotor retardation. ^1H magnetic resonance spectroscopy （^1HMRS） is a novel non-invasive method to quantitate the brain metabolites besides Phe concentration in HPA patients. And it could be acquired conveniently on clinical MRI routine scanners. This study aimed to investigate the correlation between blood Phe（ [ Phe]blood） and [ Phe]brain, the characteristics of blood-brain Phe metabolism and its impacts on mental retardation. Method Totally 32 untreated patients diagnosed with HPA were studied, including 18 boys and 14 girls （age ranging from 33 days to 13 years）. The patients were divided into two groups ： elder than 4 months old （ n = 22） and younger than 4 months old （ n = 10）. ^1HMRS were performed in all patients. [ Phe ]brain were measured by absolute [ Phe ] brain, using Creatinine as an internal reference. [Phe]blood were measured and developmental quotient （DQ） or intelligence quotients （IQ） were evaluated. Result ①[ Phe]brain measured by ^1 HMRS ranged from 0. 0640 to 0. 6296 （M = 0. 1542 ） while the [ Phc] blood was from 0. 3804 to 2. 5140 mmol/L （M = 1. 5210 mmol/L） in all the 32 cases of HPA patients. ②There was a positve linear correlation （ r = 0. 6103 （P 〈 0. 01 ） ） between [ Phe] blood and [ Phe] brain. And there were interindividual differences in [ Phe]brain in several patients. ③Variable mental retardation were observed in 23/32 cases in this study. ④There was a negative correlation between [ Phe] blood and [ Phe] brain to the mental retardation （rblood = - 0. 5045, rbrain = - 0. 6471 （P 〈 0. 01 ） ） in 22 cases of the HPA patients older than 4 months. And [ Phe ] brain had more significant correlation with mental development than [ Phe] blood. Conclusion The [ Phe ] blood could correspondingly represent the [ Phe ] brai

关 键 词：高苯丙氨酸血症 氢质子磁共振波谱 苯丙氨酸 智力损伤 

分 类 号：R686[医药卫生—骨科学]