Article
Primary hyperoxaluria: insights into its clinical presentation, genetic mutations, and transplantation outcomes in a pediatric population in a tertiary care center.
Orphanet journal of rare diseases - 28 Oct 2025
Sayed Bayan, Alhuthil Raghad, Saadeh Sermin, Al-Shareef Turki, Alhassoun Ibrahim, Al-Sabban Essam
Abstract excerpt
BACKGROUND: Primary hyperoxaluria (PH) is a rare inherited disorder characterized by excessive oxalate accumulation in blood and urine due to defects in glyoxylate metabolism, leading to significant clinical consequences. As genetic and phenotypic heterogeneity contribute to the morbidity of PH, this study examined the phenotypes and genotypes of PH among confirmed pediatric patients (< 18 years) diagnosed with...
Topics
- Humans
- Hyperoxaluria, Primary
- Male
- Female
- Child
- Child, Preschool
- Infant
- Transaminases
- Mutation
- Tertiary Care Centers
- Kidney Transplantation
- Adolescent
- Saudi Arabia
- Liver Transplantation