Clinical Characteristics, Genetic Spectrum, and Treatment Outcomes in Children With Primary Hyperoxaluria: Results From a National Turkish Registry
Pediatric Transplantation, cilt.30, sa.7, 2026 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 30 Sayı: 7
- Basım Tarihi: 2026
- Doi Numarası: 10.1111/petr.70401
- Dergi Adı: Pediatric Transplantation
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE, Academic Search Ultimate (EBSCO), Biomedical Reference Collection: Corporate Edition (EBSCO), Health Research Premium Collection (ProQuest)
- Anahtar Kelimeler: children, primary hyperoxaluria, pyridoxine, sequential liver–kidney transplantation
- Gazi Üniversitesi Adresli: Evet
Özet
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.