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Article

Second transplantation after kidney graft loss in primary hyperoxaluria type 2: a pedigree study and mutation analysis.

Renal failure - 1 Dec 2024

Peng Yushi, Zheng Yingchun, Xiong Fu, Zhang Mingming, Wang Yuchen, Luo Jia, Zeng Wenli, Hui Jialiang, Deng Wenfeng, Xu Jian, Miao Yun, Xia Renfei, Fang Yiling

Abstract excerpt

BACKGROUND: Primary hyperoxaluria type 2 (PH2) is a rare disorder caused by GRHPR mutations. Research on the mutation spectrum and pedigree of PH2 helps in comprehending its pathogenesis and clinical outcomes, guiding clinical diagnosis and treatment. METHODS: We report a case of PH2 with a three-generational pedigree. The GRHPR genotypes of the family members were confirmed by Sanger sequencing. Urine and blood...

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Identifiers

PMID: 39444286
DOI: 10.1080/0886022X.2024.2417743
PMCID: PMC11504218

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