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Article

Clinical burden, genetic heterogeneity, and diagnostic implications in primary hyperoxaluria type 2.

Pediatric nephrology (Berlin, Germany) - 1 Jul 2026

Hashmi Seema, Khatri Sabeeta, Qaiser Habib, Abid Aiysha, Firasat Sadaf, Sultan Sajid, Zubair Aasia, Zafar Mirza Naqi, Ahmed Bashir, Umer Sadaf Aba, Rizvi Syed Adibul Hasan, Ali Irshad

Abstract excerpt

BACKGROUND: Primary hyperoxaluria type 2 is a rare genetic disorder of oxalate due to a defect in the glyoxalate reductase/hydroxypyruvate reductase enzyme. This study aimed to describe the characteristics and outcomes in a pediatric population from a single center in Pakistan. METHODS: This study was conducted at the Sindh Institute of Urology and Transplantation (SIUT), Karachi, from January 2010 to December...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41703089
DOI: 10.1007/s00467-026-07203-y

Genes

GRHPR

Variants

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