苯丙氨酸羟化酶缺乏症青少年过渡期管理的专家共识

Expert consensus on transitional management of adolescents with phenylalanine hydroxylase deficiency

摘要:

目前经新生儿筛查确诊的苯丙氨酸羟化酶（PAH）缺乏症的患者大部分已从儿童期过渡至青年甚至成人期。青少年过渡期是PAH缺乏症全生命周期管理的重要阶段，该阶段需培养自我管理意识及技能，逐渐从被动管理模式过渡到自我管理模式。过渡期的管理面临诸多困难，目前国内尚无专门针对该阶段管理的专家共识。为更好地使青少年期PAH缺乏症患者向成人期治疗过渡，该共识由我国12个中心的专家根据青少年过渡期管理面临的问题充分讨论，并达成共识。最终就PAH缺乏症青少年过渡期管理的年龄设定、苯丙氨酸浓度设定、饮食管理、监测频率、并发症管理、发育评估及遗传咨询等方面形成11条推荐意见，以期进一步优化苯丙酮尿症患者的生存结局和生活质量。

Abstract:

Currently， most patients diagnosed with phenylalanine hydroxylase （PAH） deficiency through neonatal screening have progressed from childhood into young adulthood or even full adulthood. The transition period of adolescence is a critical phase in the comprehensive life-cycle management of PAH deficiency， with an emphasis on the cultivation of self-management awareness and skills and the transition from passive management to self-management. There are many difficulties in the management of this transition period， and there is still a lack of specific expert consensus on this issue. In order to facilitate the transition to adulthood treatment for adolescents with PAH deficiency， the experts from 12 centers across China have fully discussed the issues in the transitional management of adolescents， reached a consensus， and proposed 11 recommendations from the aspects of age range， phenylalanine concentration， dietary management， frequency monitoring， complication management， developmental assessment， and genetic counseling， in order to further optimize the survival outcome and quality of life of patients with phenylketonuria. ［Journal of International Neurology and Neurosurgery, 2024, 51(5): 30-35］