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Senchao Wu on Muck Rack

Senchao Wu

As seen in: Frontiers
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Articles

Case Report: A rare AGXT pathogenic variant associated with young-adult-onset end-stage kidney disease

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By Hui Jiang, Fuzhen Wang, Xiuping Qiu, Senqing Lin, Senchao Wu, Jinxiu Deng
| Frontiers
Abstract Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive metabolic disorder caused by pathogenic variants in AGXT, leading to hepatic oxalate overproduction, recurrent nephrolithiasis, nephrocalcinosis, progressive kidney dysfunction, and, in advanced stages, systemic oxalosis. Here, we report a family in which two brothers developed recurrent nephrolithiasis and progressed to end-stage kidney disease (ESKD) in young adulthood.
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