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2021•Kidney International ReportsOpen access

POS-111 I244T MUTATION IN PRIMARY HYPEROXALURIA TYPE 1: A MUTATION WITH ATYPICAL COURSE

R. DAHMANE, Soundous M’Rabet, N. Thabet, D. Zallema, W. Sahtout, Y. Guedri, A. Fradi, A. Achour

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Abstract

Primary hyperoxaluria type 1 (PH1) is a rare genetic disorder characterized by allelic and clinical heterogeneity. It’s characterized by severe urolithiasis, nephrocalcinosis, and early renal failure. We report a unusual course in a patient with primary hyperoxaluria

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What this paper is about

Primary hyperoxaluria type 1 (PH1) is a rare genetic disorder characterized by allelic and clinical heterogeneity. It’s characterized by severe urolithiasis, nephrocalcinosis, and early renal failure. We report a unusual course in a patient with primary hyperoxaluria

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Available abstract

Primary hyperoxaluria type 1 (PH1) is a rare genetic disorder characterized by allelic and clinical heterogeneity. It’s characterized by severe urolithiasis, nephrocalcinosis, and early renal failure. We report a unusual course in a patient with primary hyperoxaluria

Key concepts: Primary hyperoxaluria, Nephrocalcinosis, Medicine, Mutation, Allele, Primary (astronomy), Gastroenterology, Internal medicine

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