Fenilalaninden Kısıtlı Diyet Tüketen Fenilketonürili Çocukların Diyete Uyumunun Beslenme Durumu ve Metabolik Kontrole Etkisinin Değerlendirilmesi: Tek Merkez Çalışması

Öz

Amaç: Çalışmanın amacı, çeşitli yaş gruplarındaki fenilketonüri(FKÜ) hastalarının beslenme alışkanlıklarını, tükettikleri enerji, protein ve fenilalanin miktarını belirlemek ve diyete uyumlarının metabolik kontrol üzerindeki etkisini değerlendirmektir. Gereç ve Yöntemler: Çalışma 1 Mart 2022-30 Eylül 2022 tarihleri arasında, Ankara Bilkent Şehir Hastanesi Çocuk Hastanesi Metabolizma Polikliniği’nde FKÜ tanısı ile takip edilen 2-18 yaş arası 20 çocuk üzerinde gerçekleştirilmiştir. Katılımcılar, diyet uyumu açısından değerlendirilmiş ve kan fenilalanin ve tirozin seviyeleri ölçülmüştür. Bulgular: Çalışmaya katılan 20 hastanın %42.9’u (n=9) kız, %57.1’i (n=12) erkekti ve hastaların ortalama yaşı 4.7±3.22 yıldı. Yaş dağılımı %70 (n=14) 2-6 yaş, %20 (n=4) 6-10 yaş ve %10 (n=2) 10-13 yaş aralığındadır. Hastalar altı aylık takip süresince dört kez kontrole gelmişti. Günlük diyet fenilalanin seviyesi ile kan fenilalanin seviyesi arasında ilk ve son kontrollerde orta düzeyde negatif korelasyon, 2. ve 3. kontrollerde ise yüksek düzeyde negatif korelasyon bulundu (p=0.006, p<0.001, p<0.001, p=0.013). Günlük amino asit karışımı tüketim sıklığı ile diyet uyumu arasında pozitif orta düzeyde istatistiksel olarak anlamlı bir ilişki bulunmuştur (p=0.025). Günlük öğün sayısı arttıkça önerilen diyete uyum artmaktaydı. Takiplerde, kan fenilalanin seviyesi ile amino asit karışımının tamamının tüketimi, diyet uyumu ve günlük amino asit karışımı tüketim sıklığı arasında istatistiksel olarak anlamlı bir ilişki bulunmadı. Sonuç: Fenilketonüride beslenme alışkanlıkları, günlük diyetle alınan fenilalanin miktarı ve amino asit karışımı tüketim sıklığı, diyet uyumu ve metabolik kontrolü etkilemektedir. Yaşam boyu tıbbi beslenme tedavisinin uygulanabilirliği için multidisipliner ekip desteği, sık takip ve önerilen diyete uyum hedeflenmelidir.

Anahtar Kelimeler

• fenilalanin
• fenilketonüri
• metabolik kontrol

Evaluation of the Effect of Diet Adherence on Nutritional Status and Metabolic Control in Children with Phenylketonuria Consuming a Phenylalanine-Restricted Diet: A Single-Center Study

Öz

Objective: The aim of this study was to determine the dietary habits of patients with phenylketonuria (PKU) in different age groups, to assess energy, protein and phenylalanine intakes, and to evaluate dietary compliance and its effect on metabolic control. Material and Methods: The study, conducted between 1 March 2022 and 30 September 2022, the study involved 20 children aged 2-18 diagnosed with PKU at the Department of Pediatric Metabolism Outpatient Clinic of Ankara Bilkent City Hospital. Participants were evaluated for diet compliance and had their blood phenylalanine and tyrosine levels were measured. Results: Among the 20 patients, 42.9% (n=9) were female and 57.1% (n=11) were male, with a mean age of 4.7±3.22 years. Age distribution was 70% (n=14) aged 2-6, 20% (n=4) aged 6-10, and 10% (n=2) aged 10-13. Patients attended four follow-ups over six months. A moderate negative correlation was found between daily dietary phenylalanine and blood phenylalanine levels in the first and last controls, and a high negative correlation in the 2nd and 3rd controls (p=0.006, p<0.001, p<0.001, p=0.013). A positive moderate correlation was found between the frequency of daily amino acid mixture consumption and diet compliance (p=0.025). Increased meal frequency improved diet compliance. No significant relationship was found between blood phenylalanine levels and amino acid mixture consumption, diet compliance, or daily amino acid mixture consumption frequency. Conclusion: In PKU, nutritional habits, daily phenylalanine intake and amino acid mixture consumption frequency impact dietary compliance and metabolic control. Lifelong medical nutrition therapy requires multidisciplinary team support, frequent follow-ups and adherence to the recommended diet.

Anahtar Kelimeler

• Metabolic control
• phenyalanine
• phenylketonuria

Kaynakça

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