Pediatric transplantation · 2026
Clinical Characteristics, Genetic Spectrum, and Treatment Outcomes in Children With Primary Hyperoxaluria: Results From a National Turkish Registry.
СтатьяМногоцентровое исследованиеНазвание и аннотация: Перевод в очереди
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Akbörü Elifsu Gözde, Leventoğlu Emre, Pınarbaşı Seda, Kara Mehtap Akbalık, Kılıç Beltinge Demircioğlu, Tabel Yılmaz, Beyazıt Aysun Karabay, Yıldız Nurdan, Göknar Nilüfer, Dursun İsmail, Nalçacıoğlu Hülya, Topaloğlu Rezan, Aksu Bağdagül, Alparslan Caner, Benzer Meryem, Güven Serçin, Kara Aslıhan, Kavaz Aslı, Noyan Aytül, Sakallıoğlu Onur, Bakkaloğlu Sevcan A
Аннотация
BACKGROUND: Primary hyperoxaluria (PH) is a rare autosomal recessive disorder characterized by excessive oxalate production, leading to nephrolithiasis, nephrocalcinosis, and kidney failure. Data from large pediatric cohorts remain limited.
METHODS: This national, multicenter, retrospective study included 88 pediatric patients with PH followed in 15 centers in Türkiye between 2010 and 2024. Clinical, genetic, and treatment-related data were collected via a web-based registry, and disease progression and outcomes were analyzed.
RESULTS: The median age at diagnosis was 2.6 (IQR: 0.5-8.4) years in PH1, with an approximate diagnostic delay of 2 years. At diagnosis, nearly half (49.4%) had kidney failure. Genetic diagnosis was performed in 59 (71.1%) patients. The most frequently detected variants were p.Val324Glyfs (n = 12, 20.3%) and p.Gly170Arg (n = 9, 15.2%). During a median follow-up of 58 months (IQR: 24-109), dialysis was initiated at 51.8% and mortality reached 27.7%, particularly among patients presenting with kidney failure. Pyridoxine was used in 55.4% of patients, although response rates were limited, partly due to late diagnosis and non-genotype-guided use. Transplantation was performed in 24.1% of patients. Sequential liver-kidney transplantation provided favorable long-term renal outcomes and remains the most effective treatment for advanced disease by correcting the underlying metabolic defect. Patients with PH2 and PH3 exhibited a milder clinical course, preserved kidney function, and no mortality during follow-up.
CONCLUSIONS: Delayed diagnosis remains a major challenge in pediatric PH. Early recognition, genotype-guided therapy, and timely implementation of appropriate transplantation strategies are essential to improve outcomes.
METHODS: This national, multicenter, retrospective study included 88 pediatric patients with PH followed in 15 centers in Türkiye between 2010 and 2024. Clinical, genetic, and treatment-related data were collected via a web-based registry, and disease progression and outcomes were analyzed.
RESULTS: The median age at diagnosis was 2.6 (IQR: 0.5-8.4) years in PH1, with an approximate diagnostic delay of 2 years. At diagnosis, nearly half (49.4%) had kidney failure. Genetic diagnosis was performed in 59 (71.1%) patients. The most frequently detected variants were p.Val324Glyfs (n = 12, 20.3%) and p.Gly170Arg (n = 9, 15.2%). During a median follow-up of 58 months (IQR: 24-109), dialysis was initiated at 51.8% and mortality reached 27.7%, particularly among patients presenting with kidney failure. Pyridoxine was used in 55.4% of patients, although response rates were limited, partly due to late diagnosis and non-genotype-guided use. Transplantation was performed in 24.1% of patients. Sequential liver-kidney transplantation provided favorable long-term renal outcomes and remains the most effective treatment for advanced disease by correcting the underlying metabolic defect. Patients with PH2 and PH3 exhibited a milder clinical course, preserved kidney function, and no mortality during follow-up.
CONCLUSIONS: Delayed diagnosis remains a major challenge in pediatric PH. Early recognition, genotype-guided therapy, and timely implementation of appropriate transplantation strategies are essential to improve outcomes.