Hospital for Children and Adolescents, Centre for Pediatric Research Leipzig (CPL), Department of Women and Child Health, University Hospital, University of Leipzig, Leipzig, Germany.
University Hospital Internal Medicine, University of Leipzig, Leipzig, Germany.
Orphanet J Rare Dis. 2021 Nov 18;16(1):477. doi: 10.1186/s13023-021-02108-5.
Insufficient metabolic control during pregnancy of mothers with phenylketonuria (PKU) leads to maternal PKU syndrome, a severe embryo-/fetopathy. Since maintaining or reintroducing the strict phenylalanine (Phe) limited diet in adults with PKU is challenging, we evaluated the most important dietary and psychosocial factors to gain and sustain good metabolic control in phenylketonuric women throughout pregnancy by a questionnaire survey with 38 questions concerning therapy feasibility. Among them, the key questions covered 5 essential items of PKU care as follows: General information about maternal PKU, PKU training, diet implementation, individual metabolic care, personal support. In addition, all participating PKU mothers were asked to estimate the quality of their personal metabolic control of the concluded pregnancies. 54 PKU mothers with 81 pregnancies were approached at 12 metabolic centers in Germany and Austria were included. According to metabolic control, pregnancies of PKU women were divided in two groups: group "ideal" (not more than 5% of all blood Phe concentrations during pregnancy > 360 µmol/l; n = 23) and group "suboptimal" (all others; n = 51).
The demand for support was equally distributed among groups, concerning both amount and content. Personal support by the direct social environment (partner, family and friends) ("suboptimal" 71% vs "ideal" 78%) as well as individual metabolic care by the specialized metabolic center (both groups around 60%) were rated as most important factors. The groups differed significantly with respect to the estimation of the quality of their metabolic situation (p < 0.001). Group "ideal" presented a 100% realistic self-assessment. In contrast, group "suboptimal" overestimated their metabolic control in 53% of the pregnancies. Offspring of group "suboptimal" showed clinical signs of maternal PKU-syndrome in 27%.
The development of training programs by specialized metabolic centers for females with PKU in child bearing age is crucial, especially since those mothers at risk of giving birth to a child with maternal PKU syndrome are not aware of their suboptimal metabolic control. Such programs should provide specific awareness training for the own metabolic situation and should include partners and families.
患有苯丙酮尿症（PKU）的母亲在怀孕期间代谢控制不足会导致母体 PKU 综合征，这是一种严重的胚胎/胎儿病变。由于在 PKU 成人中维持或重新引入严格的苯丙氨酸（Phe）限制饮食具有挑战性，我们通过问卷调查评估了最重要的饮食和社会心理因素，以在整个怀孕期间获得并维持苯丙酮尿症女性的良好代谢控制。该问卷包含 38 个问题，涉及治疗可行性，其中关键问题涵盖了 PKU 护理的 5 个基本项目，如下：母体 PKU 的一般信息、PKU 培训、饮食实施、个体代谢护理、个人支持。此外，所有参与的 PKU 母亲都被要求估计她们在已结束的妊娠中个人代谢控制的质量。在德国和奥地利的 12 个代谢中心，我们接触了 54 名患有 81 次妊娠的 PKU 母亲，并将她们纳入研究。根据代谢控制情况，将 PKU 女性的妊娠分为两组：“理想”组（妊娠期间所有血液 Phe 浓度中不超过 5%>360μmol/l；n=23）和“不理想”组（所有其他；n=51）。
两组对支持的需求在数量和内容上分布均匀，直接社会环境（伴侣、家人和朋友）的个人支持（“不理想”组 71%对“理想”组 78%）以及专门代谢中心的个体代谢护理（两组均约 60%）被评为最重要的因素。两组在对自身代谢情况质量的评估上存在显著差异（p<0.001）。“理想”组 100%的人对自己的情况有现实的认识。相比之下，“不理想”组在 53%的妊娠中高估了自己的代谢控制情况。“不理想”组的后代有 27%出现母体 PKU 综合征的临床症状。
专门的代谢中心为处于生育年龄的 PKU 女性制定培训计划至关重要，特别是因为那些有生育母体 PKU 综合征患儿风险的母亲并没有意识到自己的代谢控制不理想。此类计划应针对自身的代谢情况提供专门的意识培训，并应包括伴侣和家人。
