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Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring
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Clinical Characteristics, Genetic Spectrum, and Treatment Outcomes in Children With Primary Hyperoxaluria: Results

Elifsu Gözde Akbörü1, Emre Leventoğlu2, Seda Pınarbaşı3

  • 1Faculty of Medicine, Department of Pediatrics, Gazi University, Ankara, Türkiye.

Pediatric Transplantation
|July 14, 2026
PubMed

Insights

Delayed diagnosis of primary hyperoxaluria (PH) in children leads to significant kidney failure and mortality. Early recognition and genotype-guided treatment, including timely transplantation, are crucial for improving outcomes in pediatric PH patients.

Area of Science:

  • Nephrology
  • Genetics
  • Pediatric Medicine

Background:

  • Primary hyperoxaluria (PH) is a rare, inherited metabolic disorder causing excessive oxalate production.
  • It leads to severe kidney complications like nephrolithiasis, nephrocalcinosis, and end-stage kidney disease.
  • Limited data exists on large pediatric PH cohorts, hindering comprehensive understanding and management.

Purpose of the Study:

  • To analyze the clinical characteristics, genetic landscape, and treatment outcomes of pediatric patients with primary hyperoxaluria.
  • To identify challenges in diagnosis and management within a national cohort.
  • To evaluate the effectiveness of current treatment strategies and transplantation in improving patient outcomes.

Main Methods:

  • A national, multicenter, retrospective study involving 88 pediatric PH patients from 15 centers in Türkiye (2010-2024).
  • Data collected via a web-based registry included clinical, genetic, and treatment information.
  • Analysis focused on disease progression, diagnostic delay, treatment responses, and patient outcomes.

Main Results:

  • The median age at diagnosis was 2.6 years, with a significant diagnostic delay of approximately 2 years.
  • Nearly half of patients (49.4%) presented with kidney failure at diagnosis.
  • High rates of dialysis (51.8%) and mortality (27.7%) were observed, particularly in those with initial kidney failure. Liver-kidney transplantation showed favorable outcomes for advanced disease.

Conclusions:

  • Delayed diagnosis is a critical barrier in managing pediatric PH, contributing to poor outcomes.
  • Genotype-guided therapy and early, appropriate transplantation strategies are essential.
  • Improved diagnostic pathways and timely interventions are vital to enhance survival and renal function in affected children.
Abstract

Keywords:
childrenprimary hyperoxaluriapyridoxinesequential liver–kidney transplantation

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