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

Autor:	Aaboudech, Taha Yassine, Znati, Kaoutar, Jahid, Ahmed, Sassi, Samia, Driouich, Salima, Zouaidia, Fouad, Bernoussi, Zakia
Předmět:	CHRONIC kidney failure BONE marrow GENETIC disorders OXALATES KIDNEY stones
Zdroj:	Oxford Medical Case Reports; Oct2024, Vol. 2024 Issue 10, p1-3, 3p
Abstrakt:	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. [ABSTRACT FROM AUTHOR]
Databáze:	Complementary Index
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