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Clinical and molecular spectrum of primary hyperoxaluria type 1 in Tunisia: pediatric presentation and minimum observed prevalence.

Pediatric nephrology (Berlin, Germany) - 1 Sept 2026

M'rad Ridha, Kammoun Mahdi, Achour Ahlem, Koubaa Emna, Bousetta Abir, Kaaroud Hayet, Zouaghi Mohamed Karim, Abderrahim Ezzeddine, Gargah Tahar, Trabelsi Mediha

Abstract excerpt

BACKGROUND: Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive disorder caused by pathogenic variants in the AGXT gene. In regions with a high prevalence of consanguinity, the burden of PH1 is expected to be increased; however, data on its epidemiology in Tunisia remain scarce. This study aimed to estimate the minimum observed clinical prevalence of PH1 in Tunisia, to assess the expected genetic...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 42002641
DOI: 10.1007/s00467-026-07311-9

Genes

AGXT

Variants

Provenance

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