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A Case Report of Familial Primary Hyperoxaluria Type 1 Nephropathy with c.781C>G Gene Mutation and Literature Review.

Annals of clinical and laboratory science - 1 Mar 2026

Liao Anquan, Duan Wenjuan, Chen Wen, Zhou Haiyang, Ye Changrong, Chen Pingzhen, Cai WenJing, Wu Wanqian, Wei Hailang, Liu Guohui

Abstract excerpt

OBJECTIVE: Primary hyperoxaluria type 1 (PH1), the most severe form of autosomal recessive hyperoxaluria, is caused by AGXT gene mutations that result in hepatic alanine-glyoxylate aminotransferase deficiency, which causes systemic oxalate accumulation and progressive nephropathy. CASE REPORT: The study reported a unique AGXT c.781C>G mutation in a family with two PH1 patients; the mutation was not previously...

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PMID: 42259537

Genes

AGXT

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