Primary hyperoxaluria type I (PHI) is a rare inborn error of glyoxylate metabolism in the liver, leading to endogenous oxalate overproduction inducing hyperoxaluria. Disease hallmarks are severe nephrocalcinosis, recurrent urolithiasis and rapid chronic kidney disease (CKD), with early end-stage renal disease (ESRD) in infantile oxalosis. Liver/kidney transplantation is the only curative option, thus new non-invasive treatments are undoubtedly necessary [1]. Substrate reduction therapies via RNA interference (RNAi) are currently undergoing clinical trials, targeting either glycolate oxidase–RNAi or liver-specific lactate dehydrogenase (LDHA)-RNAi, aimed at reduce endogenous oxalate production and thus urinary oxalate (Uox) excretion.

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替比妥特真的对治疗原发性高草酸尿症有效吗？

I型原发性高草酸尿症（PHI）是肝脏中罕见的乙醛酸代谢先天性错误，导致内源性草酸盐过度生产导致高草酸尿症。疾病标志是严重的肾钙化，反复尿路结石病和快速慢性肾脏病（CKD），以及婴儿草酸中毒的早期终末期肾脏病（ESRD）。肝/肾移植是唯一的治疗选择，因此无疑需要新的非侵入性治疗方法[1]。通过RNA干扰（RNAi）进行的底物减少疗法目前正在临床试验中，针对乙醇酸氧化酶– RNAi或肝脏特异性乳酸脱氢酶（LDHA）-RNAi，旨在减少内源性草酸盐的产生，从而减少尿草酸盐（Uox）的排泄。