PDF(Pubmed)
Abstract：
BACKGROUND: Phenylketonuria (PKU) is an autosomal recessive disease that belongs to a group of disorders resulting from inborn errors of protein metabolism. It was the first disease included in neonatal screening. Neonatal screening has allowed an early diagnosis and treatment of the disease. As a result, an increasing number of women diagnosed with phenylketonuria have reached the reproductive phase of life in good health, and management of pregnancy in women with PKU is becoming more frequent.
METHODS: In this study, we report the case of a 28-year-old Caucasian patient being followed up for phenylketonuria at Ramón y Cajal Hospital\'s Metabolic Diseases Unit. We describe the patient\'s gestation, impacted by her and her partner\'s diagnosis of PKU, classic and mild phenotypes, respectively, resulting in the fetus affectation.
CONCLUSIONS: The description of PKU management-diagnosis, follow-up, and treatment-for both that of patient and that of the gestation with fetus affectation covers a wide sample scenario that shows the effectiveness of pregnancy planning and monitoring of females with PKU and questions the need to carry out a genetic study of gene PKU in the study of fertility.
METHODS: In this study, we report the case of a 28-year-old Caucasian patient being followed up for phenylketonuria at Ramón y Cajal Hospital\'s Metabolic Diseases Unit. We describe the patient\'s gestation, impacted by her and her partner\'s diagnosis of PKU, classic and mild phenotypes, respectively, resulting in the fetus affectation.
CONCLUSIONS: The description of PKU management-diagnosis, follow-up, and treatment-for both that of patient and that of the gestation with fetus affectation covers a wide sample scenario that shows the effectiveness of pregnancy planning and monitoring of females with PKU and questions the need to carry out a genetic study of gene PKU in the study of fertility.
摘要：
背景：苯丙酮尿症（PKU）是一种常染色体隐性遗传疾病，属于一组由先天性蛋白质代谢错误引起的疾病。这是新生儿筛查中的第一个疾病。新生儿筛查可以对该疾病进行早期诊断和治疗。因此,越来越多的被诊断为苯丙酮尿症的妇女已经健康地达到了生命的生殖阶段，PKU妇女的妊娠管理变得越来越频繁。
方法：在本研究中，我们报道了1例28岁的高加索患者在RamónyCajal医院的代谢疾病科接受苯丙酮尿症随访.我们描述病人的妊娠，受她和她的伴侣诊断为PKU的影响，经典和温和的表型，分别,导致胎儿做作。
结论：PKU管理诊断的描述，后续行动,和治疗-对于患者和胎儿受孕的妊娠，都涵盖了广泛的样本方案，该方案显示了妊娠计划和监测PKU女性的有效性，并质疑在研究中进行PKU基因遗传研究的必要性。
方法：在本研究中，我们报道了1例28岁的高加索患者在RamónyCajal医院的代谢疾病科接受苯丙酮尿症随访.我们描述病人的妊娠，受她和她的伴侣诊断为PKU的影响，经典和温和的表型，分别,导致胎儿做作。
结论：PKU管理诊断的描述，后续行动,和治疗-对于患者和胎儿受孕的妊娠，都涵盖了广泛的样本方案，该方案显示了妊娠计划和监测PKU女性的有效性，并质疑在研究中进行PKU基因遗传研究的必要性。
