Division of Hepato-Pancreato-Biliary, Transplant, and Pediatric Surgery, Department of Surgery, Kyoto University Hospital, 54 Shogoinkawara-cho, Sakyo-ku, Kyoto, 606-8507, Japan,
Surg Today. 2013 Oct;43(10):1185-7. doi: 10.1007/s00595-012-0310-x. Epub 2012 Aug 25.
A 32-year-old male was suspected to have primary hyperoxaluria type 1 (PH1) and eventually underwent liver transplantation (LT). He was diagnosed with nephrolithiasis at 9 years of age. Right heminephrectomy was performed for a staghorn calculus. He underwent urethrotomy for urinary retention at 12 years of age. Percutaneous nephrolithotomy was performed for nephrolithiasis when he was 16 years of age. He underwent frequent extracorporeal shock wave lithotripsy for recurrent nephrolithiasis from 18 to 24 years of age. PH1 was suspected at 32 years of age, and pharmacological therapy was also initiated. He developed renal failure at 36 years of age, which was treated with intensive hemodialysis. A definitive diagnosis of PH1 was made based on a liver needle biopsy 1 month later. He received a living-donor LT at 38 years of age, and a living-donor kidney transplant from the same donor 8 months later. Though he made a good recovery, an early diagnosis and preemptive LT are important for PH1 patients.
一名 32 岁男性被怀疑患有原发性高草酸尿症 1 型（PH1），最终接受了肝移植（LT）。他在 9 岁时被诊断为肾结石。由于鹿角状结石，他接受了右半肾切除术。12 岁时，他因尿潴留接受了尿道切开术。16 岁时，他因肾结石接受了经皮肾镜碎石术。18 至 24 岁时，他因肾结石反复发作，多次接受体外冲击波碎石术。32 岁时怀疑 PH1，并开始药物治疗。36 岁时他出现肾衰竭，接受强化血液透析治疗。1 个月后，根据肝活检做出了 PH1 的明确诊断。他在 38 岁时接受了活体供肝 LT，8 个月后接受了同一供体的活体供肾移植。尽管他恢复良好，但早期诊断和预防性 LT 对 PH1 患者很重要。
