Martins Ana Maria, Pessoa Andre Luiz Santos, Quesada Andrea Amaro, Ribeiro Erlane Marques
Reference Center in Inborn Errors of Metabolism, Universidade Federal de São Paulo, São Paulo, Brazil.
Albert Sabin Children's Hospital, Fortaleza, Ceará, Brazil.
Mol Genet Metab Rep. 2020 Jul 22;24:100624. doi: 10.1016/j.ymgmr.2020.100624. eCollection 2020 Sep.
Accumulation of phenylalanine (Phe) due to deficiency in the enzyme phenylalanine hydroxylase (PAH), responsible for the conversion of Phe into tyrosine leads to Phenylketonuria (PKU), a rare autosomal recessive inborn error of metabolism with a mean prevalence of approximately 1:10,000 to 1:15,000 newborns. Physical, neurocognitive and psychiatric symptoms include neurodevelopmental disorder as intellectual disability and autism spectrum disorder. The most common treatments such as low-Phe diet and supplements may decrease blood Phe concentrations, but neuropsychological, behavioral and social issues still occur in some patients. This study aimed to better understand (i) the Brazilian population's knowledge about newborn screening (NBS), the main diagnostic method for PKU, as well as (ii) the impacts of phenylketonuria in the daily lives of patients and parents.
Two surveys in Real World Data format gathering of Brazilian residents by online questionnaires with (i) 1000 parents of children up to 5 years old between March and April 2019; (ii) 228 PKU patients and caregivers in March 2019. The survey was conducted in partnership with Abril Publisher and two Brazilian patient associations: Metabolic Mothers and SAFE Brasil, for families with rare diseases and PKU patients, respectively.
The first questionnaire shows that 93% of parents recognize the importance of NBS and 92% report that their children have undergone the test. Still, two out of ten participants did not know what the exam is or what it is for. From the second questionnaire nine out of ten patients had their PKU diagnosis by NBS. Although strict dietary controls for PKU were claimed by 44% of respondents from second questionnaire, 55% assume not following all nutritionist recommendations and 52% did not maintain routinely Phe control levels. In addition, 53% said they had high spending on medical appointments, therapies and purchase of special foods.
Despite the lack of understanding, the awareness of NBS importance is present in the studied population. The early diagnosis of most PKU patients in the study corroborates with neonatal screening central role of PKU early detection. The difficulty in adhering to dietary adjustments and the possibility that current and new therapeutic strategies other than diet could be determinant to achieve the recommended Phe levels.
由于负责将苯丙氨酸转化为酪氨酸的苯丙氨酸羟化酶（PAH）缺乏，导致苯丙氨酸（Phe）积累，进而引发苯丙酮尿症（PKU），这是一种罕见的常染色体隐性遗传代谢疾病，在新生儿中的平均发病率约为1:10000至1:15000。身体、神经认知和精神症状包括神经发育障碍，如智力残疾和自闭症谱系障碍。最常见的治疗方法，如低苯丙氨酸饮食和补充剂，可能会降低血液中苯丙氨酸的浓度，但一些患者仍会出现神经心理、行为和社会问题。本研究旨在更好地了解：（i）巴西人群对新生儿筛查（NBS）这一苯丙酮尿症主要诊断方法的了解程度，以及（ii）苯丙酮尿症对患者及其父母日常生活的影响。
通过在线问卷以真实世界数据格式对巴西居民进行了两项调查，其中一项在2019年3月至4月期间对1000名5岁以下儿童的父母进行；另一项在2019年3月对228名苯丙酮尿症患者及其护理人员进行。该调查是与Abril出版社以及两个巴西患者协会合作进行的，分别针对患有罕见疾病的家庭和苯丙酮尿症患者，即代谢母亲协会和巴西安全协会。
第一份问卷显示，93%的父母认识到新生儿筛查的重要性，92%的父母报告他们的孩子已经接受了该项检查。然而，每十名参与者中仍有两人不知道该检查是什么或其目的是什么。从第二份问卷来看，十分之九的患者通过新生儿筛查被诊断出患有苯丙酮尿症。尽管第二份问卷中有44%的受访者声称对苯丙酮尿症进行了严格的饮食控制，但55%的人表示没有遵循所有营养师的建议，52%的人没有定期维持苯丙氨酸控制水平。此外，53%的人表示他们在医疗预约、治疗和购买特殊食品方面花费很高。
尽管存在认识不足的情况，但在所研究的人群中，对新生儿筛查重要性的认识仍然存在。本研究中大多数苯丙酮尿症患者的早期诊断证实了新生儿筛查在苯丙酮尿症早期检测中的核心作用。坚持饮食调整存在困难，而且除饮食外，当前和新的治疗策略可能是达到推荐苯丙氨酸水平的决定性因素。
