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首页> 外文期刊>American journal of medical genetics, Part A >Factors that increase risk for poor adherence to phenylketonuria treatment in Brazilian patients
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Factors that increase risk for poor adherence to phenylketonuria treatment in Brazilian patients

机译：增加巴西患者对苯蔗糖尿症治疗的粘附性不良风险的因素

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Neurotoxic effects caused by high phenylalanine (Phe) in patients with phenylketonuria (PKU) can be avoided through dietary treatment. However, achieving the recommended Phe levels has been a challenge. This study aimed to investigate factors associated with adherence to PKU treatment among patients followed at a medical genetics public service in southern Brazil. Twenty-nine patients (early diagnosed, n = 20; late-diagnosed, n -= 9) with classical (n = 16) or mild PKU (n = 13) aged 634 years (16.4 +/- 7.5) and 16 caregivers were included. Blood Phe levels were recorded, and assessment tools measuring barriers to treatment, IQ, knowledge about disease, treatment, and perceived adherence were collected. Classical PKU patients showed higher current blood Phe levels than mild PKU patients (U = 37.000, p = 0.003). Lifetime and childhood Phe levels were associated with recent metabolic control (r = 0.76, p = 0.000; r = 0.70, p = 0.000, respectively). The perception of barriers to treatment was associated with a higher blood Phe level (r = 0.39, p = 0.003). Tolerance to Phe, metabolic control throughout childhood, and perceived difficulty in living with demands of treatment are important factors of greater vulnerability to poor adherence in PKU patients.
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