Wang Xin-Yue, Zeng Zhi-Gui, Zhu Zhi-Jun, Wei Lin, Qu Wei, Liu Ying, Tan Yu-Le, Wang Jun, Zhang Hai-Ming, Shi Wen, Sun Li-Ying
Department of Critical Liver Diseases, Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing 101100, China.
Liver Transplantation Center, Beijing Friendship Hospital, Capital Medical University, Beijing 101100, China.
World J Clin Cases. 2023 Feb 16;11(5):1068-1076. doi: 10.12998/wjcc.v11.i5.1068.
Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive disease stemming from a deficiency in liver-specific alanine-glyoxylate aminotransferase, resulting in increased endogenous oxalate deposition and end-stage renal disease. Organ transplantation is the only effective treatment. However, its approach and timing remain controversial.
We retrospectively analyzed 5 patients diagnosed with PH1 from the Liver Transplant Center of the Beijing Friendship Hospital from March 2017 to December 2020. Our cohort included 4 males and 1 female. The median age at onset was 4.0 years (range: 1.0-5.0), age at diagnosis was 12.2 years (range: 6.7-23.5), age at liver transplantation (LT) was 12.2 years (range: 7.0-25.1), and the follow-up time was 26.3 mo (range: 12.8-40.1). All patients had delayed diagnosis, and 3 patients had progressed to end-stage renal disease by the time they were diagnosed. Two patients received preemptive LT; their estimated glomerular filtration rate was maintained at > 120 mL/min/1.73 m, indicating a better prognosis. Three patients received sequential liver and kidney transplantation. After transplantation, serum and urinary oxalate decreased, and liver function recovered. At the last follow-up, the estimated glomerular filtration rates of the latter 3 patients were 179, 52 and 21 mL/min/1.73 m.
Different transplantation strategies should be adopted for patients based on their renal function stage. Preemptive-LT offers a good therapeutic approach for PH1.
1型原发性高草酸尿症（PH1）是一种罕见的常染色体隐性疾病，由肝脏特异性丙氨酸-乙醛酸转氨酶缺乏引起，导致内源性草酸盐沉积增加和终末期肾病。器官移植是唯一有效的治疗方法。然而，其治疗方法和时机仍存在争议。
我们回顾性分析了2017年3月至2020年12月在北京友谊医院肝脏移植中心确诊为PH1的5例患者。我们的队列包括4名男性和1名女性。发病的中位年龄为4.0岁（范围：1.0 - 5.0岁），诊断时年龄为12.2岁（范围：6.7 - 23.5岁），肝移植（LT）时年龄为12.2岁（范围：7.0 - 25.1岁），随访时间为26.3个月（范围：12.8 - 40.1个月）。所有患者均诊断延迟，3例患者在确诊时已进展至终末期肾病。2例患者接受了抢先肝移植；他们的估计肾小球滤过率维持在>120 mL/min/1.73 m²，提示预后较好。3例患者接受了序贯肝肾移植。移植后，血清和尿草酸盐降低，肝功能恢复。在最后一次随访时，后3例患者的估计肾小球滤过率分别为179、52和21 mL/min/1.73 m²。
应根据患者的肾功能阶段采取不同的移植策略。抢先肝移植为PH1提供了一种良好的治疗方法。
