Publications by authors named "K Znati"
Oxf Med Case Reports
October 2024
Article Synopsis
- A 46-year-old woman with chronic kidney issues and kidney stones was diagnosed with primary hyperoxaluria type 1 (PH1) through a bone marrow biopsy.
- Genetic testing revealed a specific mutation (p.Ile244Thr) in the AGXT gene, which is linked to the disorder.
- The paper emphasizes the need for early diagnosis of kidney stone issues, especially in families with a history of the condition, to avoid severe kidney damage and systemic complications.
