摘要
母源性高苯丙氨酸血症(hyperphenylalaninemia,HPA),尤其是母源性苯丙氨酸羟化酶(phenylalanine hydroxylase,PAH)缺乏症,是影响胎儿发育的重要母源性疾病。本研究综述了国内外目前HPA孕妇在孕前、孕期及产后的综合管理策略。强调在孕前进行健康宣教以提高依从性,并通过基因诊断明确分型以指导个体化治疗及遗传风险评估。孕期需多学科协作,在保证胎儿营养的前提下严格控制苯丙氨酸摄入,定期监测血苯丙氨酸水平,同时严密监测胎儿结构及生长发育指标。产后管理包括新生儿筛查、鼓励非HPA婴儿母乳喂养,以及对母亲进行长期苯丙氨酸监测等。通过孕前严格的苯丙氨酸控制、贯穿孕产期及产后的个体化动态营养管理、多学科协作以及长期随访,最大程度地改善母婴结局。
Maternal hyperphenylalaninemia(HPA),particularly maternal phenylalanine hydroxylase(PAH)deficiency,is an important maternal disorder affecting fetal development.This article provides a comprehensive review of the current management strategies,both domestically and internationally,for pregnant women with HPA across the preconception,prenatal,and postpartum periods.The program emphasizes preconception health education to improve treatment adherence and the use of genetic diagnosis for accurate phenotyping,which can guide personalized therapy and genetic risk assessment.Prenatal management relies on multidisciplinary collaboration.This approach involves the strict regulation of phenylalanine(Phe)intake of the pregnant women with HPA,while ensuring adequate fetal nutrition,and regular monitoring of maternal blood Phe levels.Concurrently,close monitoring of fetal structural development and growth parameters is essential.Postnatal management includes newborn screening,encouragement of breastfeeding for non-HPA infants,and long-term Phe monitoring of mothers.It is evident that the implementation of rigorous preconception Phe control,personalized nutritional management throughout the preconception,prenatal,and postpartum periods,multidisciplinary collaboration,and comprehensive long-term follow-up,can substantially improve outcomes for both mothers and infants.
作者
杨雪婷
郝娜
周希亚
Yang Xueting;Hao Na;Zhou Xiya(Department of Obstetrics and Gynecology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences,Peking Union Medical College,National Key Laboratory of Critical and Rare Diseases,National Clinical Research Center for Obstetric and Gynecological Diseases,Beijing 100730,China)
出处
《发育医学电子杂志》
2025年第6期469-474,共6页
Journal of Developmental Medicine (Electronic Version)
基金
中央高水平医院临床科研专项(2022-PUMCH-B-076)
国家临床重点专科建设项目(U114000)。
关键词
母源性疾病
高苯丙氨酸血症
苯丙氨酸羟化酶缺乏症
孕期管理
多学科协作
Maternal disease
Hyperphenylalaninemia
Phenylalanine hydroxylase deficiency
Gestational management
Multidisciplinary collaboration
