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Article

Primary hyperoxaluria in Italy: the past 30 years and the near future of a (not so) rare disease.

Journal of nephrology - 1 Apr 2022

Mandrile Giorgia, Pelle Alessandra, Sciannameo Veronica, Benetti Elisa, D'Alessandro Maria Michela, Emma Francesco, Montini Giovanni, Peruzzi Licia, Petrarulo Michele, Romagnoli Renato, Vitale Corrado, Cellini Barbara, Giachino Daniela

Abstract excerpt

BACKGROUND: Primary hyperoxalurias (PHs) are rare autosomal recessive diseases of the glyoxylate metabolism; PH1 is caused by mutations in the AGXT gene, PH2 in GRHPR and PH3 in HOGA1. METHODS: Here we report the first large multi-center cohort of Italian PH patients collected over 30 years (1992-2020 median follow-up time 8.5 years). Complete genotype was available for 94/95 PH1 patients and for all PH2 (n = 3)...

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Identifiers

PMID: 35218550
DOI: 10.1007/s40620-022-01258-4
PMCID: PMC8995259

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