Türkiye'deki Ulusal Yenidoğan Tarama Programı Tarafından Metabolizma Bölümüne Yönlendirilen Yenidoğanlarin Tanı ve Tedavisi: Beş Yıllık Tek Merkez Deneyimi

Öz

Amaç: Bu çalışmanın amacı, Türkiye Ulusal Yenidoğan Tarama Programı (UYTP)’de tarama yapılan kalıtsal metabolik hastalık şüphesiyle merkezimize yönlendirilen yenidoğanların biyokimyasal ve genetik testleri ile tedavi planlarını araştırmaktı. Gereç ve Yöntemler: Ocak 2019 ile Kasım 2023 tarihleri arasında UYTP tarafından yönlendirilen bebeklerin tıbbi kayıtları geriye dönük tarandı. Şüpheli biotinidaz eksikliği (BE) için plazma biyotinidaz aktivitesi ve BTD gen analizsonuçları, fenilketonüri (FKÜ) şüphesi için plazma fenilalanin ve PAH gen analizi ile birlikte tedavi bilgileri araştırıldı. Bulgular: Yetmiş-sekizi (%54.5) şüpheli BE ve 65’i (%45.5) şüpheli FKÜ olmak üzere toplam 143 bebek dahil edildi. Yüksek plazma fenilalanin seviyelerine sahip olanların 23’üne (%35.4) PAH gen analizi yapılmış, bunların %86.9’unda biallelik variant saptanmıştı. Beş hastada sapropterin-diyet kombinasyon tedavisine, üç hastada diyet tedavisine ve bir hastada sapropterin tedavisine başlanmıştı. Şüpheli BE ile yönlendirilen bebeklerin ilk serum biyotinidaz aktivite ölçümünde, %48.7’sinde heterozigot eksiklik, %39.7’sinde kısmi eksiklik ve %10.3’ünde derin eksiklik saptanmıştı. Şüpheli BE olan bebeklerin %79.5’ine BTD gen analizi yapılmış ve %50 oranında biallelik varyant saptanmıştı. Kırk altı hastaya (%59) biyotin tedavisi başlanmıştı. Sonuç: Çalışmamızda, beş yıllık süre boyunca UYTP tarafından yönlendirilen bebeklerin yaklaşık üçte birinde ilgili hastalığın biallelik varyantları bulunduğu gösterildi. Araştırmamız, ülkemizde UYTP üzerine yapılan az sayıdaki çalışmalardan biridir ve FKÜ ve BE’nin tanı ve tedavi sürecini sunmaktadır.

Anahtar Kelimeler

• Biotinidaz eksikliği
• Fenilketonüri
• Türkiye
• Yenidoğan tarama

Diagnosis and Treatment of Newborns Referred to the Metabolism Department From the National Newborn Screening Program in Türkiye: A 5-Year Single-Center Experience

Öz

Objective: The aims of this study were to investigate biochemical and genetic tests and treatment plans of newborns referred to our center with inherited metabolic disorders screened in Türkiye National Newborn Screening Program (NNSP). Material and Methods: The medical records of babies referred by the NNSP between January 2019 and November 2023 were scanned retrospectively. Plasma biotinidase activity and the biotinidase gene (BTD) analysis results for suspected biotinidase deficiency (BD), the plasma phenylalanine and phenylalanine hydroxylase gene (PAH) analysis for a suspicion of phenylketonuria (PKU) were documented with treatment information. Results: A total of 143 babies, 78 (54.5%) with suspected BD and 65 (45.5%) with suspected PKU were included. A PAH gene analysis was performed on 23 (35.4%) of those had high plasma phenylalanine levels, among which 86.9% were identified with the biallelic variant. Five patients were started on sapropterin-diet combined therapy, three on diet therapy and one on sapropterin therapy. In the first serum biotinidase activity measurement of babies referred with suspected BD, a heterozygous deficiency was detected in 48.7%, partial deficiency in 39.7% and profound deficiency in 10.3%. A BTD gene analysis was performed on 79.5% of those with suspected BD, and biallelic variants were detected in 50%. Forty-six patients (59.0%) underwent biotin treatment. Conclusion: In our study, approximately one-third of the babies referred from NNSP over the five-year course of the study had biallelic variants of the relevant disease. Our research is one of the few studies on NNSP in our country and presents the diagnosis and treatment process of PKU and BD.

Anahtar Kelimeler

• Biotinidase deficiency
• Phenylketonuria
• Türkiye
• Neonatal Screening

Kaynakça

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