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Key European guidelines for the diagnosis and management of patients with phenylketonuria.
The Lancet ( IF 98.4 ) Pub Date : 2017-09-01 , DOI: 10.1016/s2213-8587(16)30320-5 Francjan J van Spronsen 1 , Annemiek Mj van Wegberg 1 , Kirsten Ahring 2 , Amaya Bélanger-Quintana 3 , Nenad Blau 4 , Annet M Bosch 5 , Alberto Burlina 6 , Jaime Campistol 7 , Francois Feillet 8 , Maria Giżewska 9 , Stephan C Huijbregts 10 , Shauna Kearney 11 , Vincenzo Leuzzi 12 , Francois Maillot 13 , Ania C Muntau 14 , Fritz K Trefz 15 , Margreet van Rijn 16 , John H Walter 17 , Anita MacDonald 18
The Lancet ( IF 98.4 ) Pub Date : 2017-09-01 , DOI: 10.1016/s2213-8587(16)30320-5 Francjan J van Spronsen 1 , Annemiek Mj van Wegberg 1 , Kirsten Ahring 2 , Amaya Bélanger-Quintana 3 , Nenad Blau 4 , Annet M Bosch 5 , Alberto Burlina 6 , Jaime Campistol 7 , Francois Feillet 8 , Maria Giżewska 9 , Stephan C Huijbregts 10 , Shauna Kearney 11 , Vincenzo Leuzzi 12 , Francois Maillot 13 , Ania C Muntau 14 , Fritz K Trefz 15 , Margreet van Rijn 16 , John H Walter 17 , Anita MacDonald 18
Affiliation
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We developed European guidelines to optimise phenylketonuria (PKU) care. To develop the guidelines, we did a literature search, critical appraisal, and evidence grading according to the Scottish Intercollegiate Guidelines Network method. We used the Delphi method when little or no evidence was available. From the 70 recommendations formulated, in this Review we describe ten that we deem as having the highest priority. Diet is the cornerstone of treatment, although some patients can benefit from tetrahydrobiopterin (BH4). Untreated blood phenylalanine concentrations determine management of people with PKU. No intervention is required if the blood phenylalanine concentration is less than 360 μmol/L. Treatment is recommended up to the age of 12 years if the phenylalanine blood concentration is between 360 μmol/L and 600 μmol/L, and lifelong treatment is recommended if the concentration is more than 600 μmol/L. For women trying to conceive and during pregnancy (maternal PKU), untreated phenylalanine blood concentrations of more than 360 μmol/L need to be reduced. Treatment target concentrations are as follows: 120-360 μmol/L for individuals aged 0-12 years and for maternal PKU, and 120-600 μmol/L for non-pregnant individuals older than 12 years. Minimum requirements for the management and follow-up of patients with PKU are scheduled according to age, adherence to treatment, and clinical status. Nutritional, clinical, and biochemical follow-up is necessary for all patients, regardless of therapy.
中文翻译：
苯丙酮尿症患者诊断和治疗的欧洲主要指南。
我们制定了欧洲指南来优化苯丙酮尿症 (PKU) 护理。为了制定指南，我们根据苏格兰校际指南网络方法进行了文献检索、批判性评估和证据分级。当证据很少或没有证据时，我们使用了德尔菲法。在制定的 70 项建议中，我们在本次审查中描述了 10 项我们认为具有最高优先级的建议。饮食是治疗的基石，尽管有些患者可以从四氢生物蝶呤 (BH4) 中受益。未经治疗的血液苯丙氨酸浓度决定了 PKU 患者的治疗。血苯丙氨酸浓度低于360μmol/L则无需干预。如果血中苯丙氨酸浓度在360μmol/L至600μmol/L之间，建议治疗至12岁；如果浓度超过600μmol/L，建议终身治疗。对于试图怀孕和怀孕期间的女性（母体 PKU），未经治疗的苯丙氨酸血液浓度超过 360 μmol/L 需要降低。治疗目标浓度如下：0-12岁个体和孕产妇PKU为120-360μmol/L，12岁以上非妊娠个体为120-600μmol/L。 PKU 患者管理和随访的最低要求是根据年龄、治疗依从性和临床状况制定的。无论治疗如何，所有患者都需要进行营养、临床和生化随访。
更新日期：2017-08-10
中文翻译：
苯丙酮尿症患者诊断和治疗的欧洲主要指南。
我们制定了欧洲指南来优化苯丙酮尿症 (PKU) 护理。为了制定指南，我们根据苏格兰校际指南网络方法进行了文献检索、批判性评估和证据分级。当证据很少或没有证据时，我们使用了德尔菲法。在制定的 70 项建议中，我们在本次审查中描述了 10 项我们认为具有最高优先级的建议。饮食是治疗的基石，尽管有些患者可以从四氢生物蝶呤 (BH4) 中受益。未经治疗的血液苯丙氨酸浓度决定了 PKU 患者的治疗。血苯丙氨酸浓度低于360μmol/L则无需干预。如果血中苯丙氨酸浓度在360μmol/L至600μmol/L之间，建议治疗至12岁；如果浓度超过600μmol/L，建议终身治疗。对于试图怀孕和怀孕期间的女性（母体 PKU），未经治疗的苯丙氨酸血液浓度超过 360 μmol/L 需要降低。治疗目标浓度如下：0-12岁个体和孕产妇PKU为120-360μmol/L，12岁以上非妊娠个体为120-600μmol/L。 PKU 患者管理和随访的最低要求是根据年龄、治疗依从性和临床状况制定的。无论治疗如何，所有患者都需要进行营养、临床和生化随访。
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