Primary hyperoxaluria type 3: from infancy to adulthood in a genetically unique cohort.

ABSTRACT:

Background

Primary hyperoxaluria type 3 (PH3) is a rare autosomal recessive disorder caused by bi-allelic genetic variants in the 4 hydroxy-2 oxoglutarate aldolase (HOGA-1) gene. We report the natural history of PH3 in a 16-patient cohort, 15 from a unique genetically isolated population.

Methods

This retrospective single-center study followed PH3 patients between 2003 and 2023 with demographic, clinical, radiographic, genetic, and biochemical parameters. Genetic population screening was performed in four villages to determine carrier frequency and identify couples at risk in a genetically isolated population.

Results

Sixteen patients with biallelic (or homozygous) pathogenic variants (PV) in HOGA-1 (c.944_946 del, c.119C > A, c.208C > T) were included in the study, 1

SUBMITTER: Julius M 

PROVIDER: S-EPMC11753311 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature