维吾尔族苯丙酮尿症患儿苯丙氨酸合适摄入量的研究
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摘要
目的研究适合维吾尔族苯丙酮尿症患儿的苯丙氨酸摄入量,为今后维吾尔族苯丙酮尿症患儿的饮食调整提供可参考和借鉴的临床证据。方法采用完全随机分组方式,将71名符合纳入标准的苯丙酮尿症患儿,分别给予苯丙氨酸推荐摄入量和推荐摄入量的半量,获得2w详细的每日膳食记录,计算苯丙氨酸摄入量,每7天检测干血片phe浓度。结果半量组干预后血phe均值为(5.47±3.32)mg/dl,全量组干预后为(8.76±3.30)mg/dl,差异有统计学意义(t=-3.625,P<0.05);耐受量与月龄(12～48月)、确诊时血phe水平的相关系数均无统计学意义(P=0.277,0.826)。结论对于维吾尔族苯丙酮尿症患儿,给予推荐苯丙氨酸摄入量的半量可更有效控制血phe水平,但需注意血苯丙氨酸过低情况,本研究表明12～48月患儿苯丙氨酸模拟耐受量与确诊时phe值、当前月龄无关。
Objective:The purpose of this study is to explore the phenylalanine intake suitable for PKU children of Uighur,and provide a clinical evidence or reference in the dietary guidance of children with Uygur phenylketonuria.Methods:Seventyone children with phenylketonuria were included in the randomized study,given recommended phenylalanine intake(full intake)treatment or half of the recommended intake(half intake)for two weeks of dietary intervention.A detailed daily dietary record was obtained to calculate phenylalanine intake.Phenylketonuria concentrations in dried blood were determined in every 7 days. Results:After the intervention of the half intake group,the mean value of blood phe was 5.47±3.32 mg/dl,and that in the full intake group was 8.76±3.30 mg/dl.The two groups have significant difference(t=-3.625,P<0.05). There was no significant correlation between the tolerance and the age of the month(12-48 months)(P=0.277),and the blood phe level at the time of diagnosis(P=0.826). Conclusion:Giving a half dose of recommended phenylalanine intake can control blood phe levels more effectively.But it should be noted that this may result in a low concentration of phenylalanine(<2 mg/dl). The phenylalanine tolerance of the child has no relationship with the phe value at the time of diagnosis and the current age of the child.
Objective:The purpose of this study is to explore the phenylalanine intake suitable for PKU children of Uighur,and provide a clinical evidence or reference in the dietary guidance of children with Uygur phenylketonuria.Methods:Seventyone children with phenylketonuria were included in the randomized study,given recommended phenylalanine intake(full intake)treatment or half of the recommended intake(half intake)for two weeks of dietary intervention.A detailed daily dietary record was obtained to calculate phenylalanine intake.Phenylketonuria concentrations in dried blood were determined in every 7 days. Results:After the intervention of the half intake group,the mean value of blood phe was 5.47±3.32 mg/dl,and that in the full intake group was 8.76±3.30 mg/dl.The two groups have significant difference(t=-3.625,P<0.05). There was no significant correlation between the tolerance and the age of the month(12-48 months)(P=0.277),and the blood phe level at the time of diagnosis(P=0.826). Conclusion:Giving a half dose of recommended phenylalanine intake can control blood phe levels more effectively.But it should be noted that this may result in a low concentration of phenylalanine(<2 mg/dl). The phenylalanine tolerance of the child has no relationship with the phe value at the time of diagnosis and the current age of the child.
引文
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[2]顾学范.新生儿疾病筛查[M].上海:上海科学技术文献出版社,2003.
[3]中华医学会儿科学分会内分泌遗传代谢学组.高苯丙氨酸血症的诊治共识[J].中华儿科杂志,2014,52(6):420-425.
[4]Singh RH,Rohr F,Frazier D,et al.Recommendations for the nutrition management of phenylalanine hydroxylase deficiency[J].Genet Med,2014,16(2):121-131.
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[6]杨月欣,王光亚.中国食物成分表,2002[M].北京:北京大学医学出版社,2002.
[7]Gu XF,Wang ZG.Screening for phenylketonuria and congenital hypothyroidism in 5.8 million neonates in China[J].Zhonghua Yu Fang Yi Xue Za Zhi,2004,38(2):99-102.
[8]佚名.新疆统计年鉴[M].北京:中国统计出版社,2014.
[9]王慧琴,热孜宛古丽·约麦尔,补娟,等.新疆南疆地区近5年691700例新生儿疾病筛查结果分析[J].预防医学情报杂志,2018(5):618-621.
[10]伏宣霖.二代测序技术在苯丙酮尿症分子诊断的应用研究[D].石河子:石河子大学,2017.
[11]刘翛然,陈曦,夏燕,等.新疆地区经典型苯丙酮尿症患儿治疗依从性影响因素分析[J].中国儿童保健杂志,2016,24(2):213-216.
[12]苏雅洁,蒋海丽,阿仙,等.南疆地区新生儿家属对新生儿疾病筛查认知情况调查[J].中国妇幼健康研究,2016,27(5):634-636.
[13] Podeshakked B,Shemermeiri L,Harmelin A,et al.Man made disease:clinical manifestations of low phenylalanine levels in an inadequately treated phenylketonuria patient and mouse study[J].Mol Genet Metab,2013,110(12):S66-S70.
[14] SadekAA,HassanMH,MohammedNA.Clinicaland neuropsychological outcomes for children with phenylketonuria in Upper egypt;a single-center study over 5 years[J]. Neuropsychiatr Dis Treat,2018,14:2551-2561.
[15] van Spronsen FJ,Van R M,Dorgelo B,et al.Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU[J].J Inherit Metab Dis,2009,32(1):27.
[16] van Spronsen FJ,van Wegberg AM,Ahring K,et al.Key European guidelines for the diagnosis and management of patients with phenylketonuria[J].Lancet Diabetes Endocrinol,2017,5(9):743-756.
[17] Blau N,Shen N,Carducci C.Molecular genetics and diagnosis of phenylketonuria:state of the art[J].Expert Rev Mol Diagn,2014,14(6):655-71.
[18] Blau N,Hennermann JB,Langenbeck U,Lichter-Konecki U.Diagnosis,classification and genetics of phenylketonuria and tetrahydrobiopterin(BH4)deficiencies[J].Mol Genet Metab,2011,104:S2-9.
[19] Rohde C,Mütze,U,Weigel JF W,et al.Unrestricted consumption of fruits and vegetables in phenylketonuria:no major impact on metabolic control[J].Eur J Clin Nutr,2012,66(5):633-638.
[20] Rohde C,Mütze,U,Schulz S,et al.Unrestricted fruits and vegetables in the PKU diet:a 1-year follow-up[J].Eur J Clin Nutr,2014,68(3):401-403.
[2]顾学范.新生儿疾病筛查[M].上海:上海科学技术文献出版社,2003.
[3]中华医学会儿科学分会内分泌遗传代谢学组.高苯丙氨酸血症的诊治共识[J].中华儿科杂志,2014,52(6):420-425.
[4]Singh RH,Rohr F,Frazier D,et al.Recommendations for the nutrition management of phenylalanine hydroxylase deficiency[J].Genet Med,2014,16(2):121-131.
[5]程义勇.《中国居民膳食营养素参考摄入量》2013修订版简介[J].营养学报,2014,36(4):313-317.
[6]杨月欣,王光亚.中国食物成分表,2002[M].北京:北京大学医学出版社,2002.
[7]Gu XF,Wang ZG.Screening for phenylketonuria and congenital hypothyroidism in 5.8 million neonates in China[J].Zhonghua Yu Fang Yi Xue Za Zhi,2004,38(2):99-102.
[8]佚名.新疆统计年鉴[M].北京:中国统计出版社,2014.
[9]王慧琴,热孜宛古丽·约麦尔,补娟,等.新疆南疆地区近5年691700例新生儿疾病筛查结果分析[J].预防医学情报杂志,2018(5):618-621.
[10]伏宣霖.二代测序技术在苯丙酮尿症分子诊断的应用研究[D].石河子:石河子大学,2017.
[11]刘翛然,陈曦,夏燕,等.新疆地区经典型苯丙酮尿症患儿治疗依从性影响因素分析[J].中国儿童保健杂志,2016,24(2):213-216.
[12]苏雅洁,蒋海丽,阿仙,等.南疆地区新生儿家属对新生儿疾病筛查认知情况调查[J].中国妇幼健康研究,2016,27(5):634-636.
[13] Podeshakked B,Shemermeiri L,Harmelin A,et al.Man made disease:clinical manifestations of low phenylalanine levels in an inadequately treated phenylketonuria patient and mouse study[J].Mol Genet Metab,2013,110(12):S66-S70.
[14] SadekAA,HassanMH,MohammedNA.Clinicaland neuropsychological outcomes for children with phenylketonuria in Upper egypt;a single-center study over 5 years[J]. Neuropsychiatr Dis Treat,2018,14:2551-2561.
[15] van Spronsen FJ,Van R M,Dorgelo B,et al.Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU[J].J Inherit Metab Dis,2009,32(1):27.
[16] van Spronsen FJ,van Wegberg AM,Ahring K,et al.Key European guidelines for the diagnosis and management of patients with phenylketonuria[J].Lancet Diabetes Endocrinol,2017,5(9):743-756.
[17] Blau N,Shen N,Carducci C.Molecular genetics and diagnosis of phenylketonuria:state of the art[J].Expert Rev Mol Diagn,2014,14(6):655-71.
[18] Blau N,Hennermann JB,Langenbeck U,Lichter-Konecki U.Diagnosis,classification and genetics of phenylketonuria and tetrahydrobiopterin(BH4)deficiencies[J].Mol Genet Metab,2011,104:S2-9.
[19] Rohde C,Mütze,U,Weigel JF W,et al.Unrestricted consumption of fruits and vegetables in phenylketonuria:no major impact on metabolic control[J].Eur J Clin Nutr,2012,66(5):633-638.
[20] Rohde C,Mütze,U,Schulz S,et al.Unrestricted fruits and vegetables in the PKU diet:a 1-year follow-up[J].Eur J Clin Nutr,2014,68(3):401-403.