Abstract：
We report the case of a 12-year-old boy with primary hyperoxaluria type 2 (PH2) presenting with end-stage renal disease and systemic oxalosis who underwent a combined living donor liver and kidney transplant from 3 donors, 1 of whom was a heterozygous carrier of the mutation. Plasma oxalate and creatinine levels normalized immediately following the transplant and remain normal after 18 months. We recommend combined liver and kidney transplantation as the preferred therapeutic option for children with primary hyperoxaluria type 2 with early-onset end-stage renal disease.
摘要：
我们报告了一名12岁男孩，患有2型原发性高草酸尿症（PH2），患有终末期肾病和全身性草酸血症，他接受了来自两个供体的联合活体供体肝脏和肾脏移植，其中一个是杂合携带者突变。血浆草酸盐和肌酐水平在移植后立即恢复正常，并在18个月后保持正常。我们建议肝肾联合移植作为PH2早发性终末期肾病患儿的首选治疗选择。
