Unveiling primary Hyperoxaluria type 1: a fortuitous discovery through bone marrow biopsy.

This paper details a rare case of primary hyperoxaluria type 1 (PH1) identified through a bone marrow biopsy in a 46-year-old female patient with a history of nephrolithiasis and chronic renal failure. Genetic analysis identified the p.Ile244Thr mutation in the AGXT gene, confirming the diagnosis of PH1. The paper aims to highlight this case, focusing on the genetic basis of the disorder, including the identified mutation. It underscores the importance of early diagnosis of infantile and childhood nephrolithiasis, particularly in cases with familial history, to prevent renal loss and systemic oxalosis.

© The Author(s) 2024. Published by Oxford University Press.

None declared.