Shapiro R, Weismann I, Mandel H, Eisenstein B, Ben-Ari Z, Bar-Nathan N, Zehavi I, Dinari G, Mor E
Pediatric Gastroenterology and Nephrology Units, Schneider Children's Medical Center, Petach-Tikva, 49100, Israel.
Transplantation. 2001 Aug 15;72(3):428-32. doi: 10.1097/00007890-200108150-00012.
The appropriate use of liver transplantation in children with type-1 primary hyperoxaluria (PH-1) is not well established. We reviewed our experience with 36 children with PH-1, including 12 who underwent liver transplantation.
From 1989-1998, 36 children from 10 families in northern Israel were diagnosed with PH-1. Eight children presented with renal failure; seven of these eight had the severe infantile form of the disease. One child was treated with kidney transplantation alone. Combined liver-kidney transplantation has been performed in nine children and preemptive liver transplantation in three children. A review of the patients' charts for the following parameters was performed: age, clinical signs, and renal sonographic findings at diagnosis, age at onset of dialysis, and current status. Type of transplant, pre- and posttransplant urine oxalate excretion, current renal function, survival, and complications were recorded in liver recipients.
Of the 23 nontransplanted children, 9 died of complications related to severe systemic oxalosis and 14 are alive (mean follow-up, 7.4 years), including 2 who are candidates for transplantation. The child who underwent only kidney transplantation died of unrelated causes. Of the 12 liver recipients, 2 died within the first 3 months posttransplant and another child underwent retransplantation due to hepatic arterial thrombosis. At intervals after transplant ranging from 6-54 months, 10 recipients are alive (7 of the 9 recipients of combined liver-kidney transplants and all 3 recipients of preemptive liver transplants). Mean GFR in the 10 survivors is 77 ml/min/m2. In 9 of these 10, daily urinary oxalate excretion normalized. Renal function has improved (mean GFR 86 vs. 58 ml/min/m2) but renal oxalate deposits remain in the three recipients of isolated liver grafts.
Our decade-long experience with children with PH-1 supports strategies for early diagnosis and timely liver transplantation. Preemptive isolated liver transplantation should be considered in children who develop the disease during infancy or in those with slowly progressive disease when significant symptoms develop. Combined liver-kidney transplantation is suggested for children with end-stage renal disease.
1型原发性高草酸尿症（PH-1）患儿肝移植的合理应用尚未明确。我们回顾了36例PH-1患儿的治疗经验，其中12例接受了肝移植。
1989年至1998年，以色列北部10个家庭的36名儿童被诊断为PH-1。8例患儿出现肾衰竭；这8例中的7例患有严重的婴儿型疾病。1例患儿仅接受了肾移植。9例患儿接受了肝肾联合移植，3例患儿接受了抢先肝移植。对患者病历进行了以下参数的回顾：诊断时的年龄、临床体征和肾脏超声检查结果、开始透析的年龄以及目前状况。记录肝移植受者的移植类型、移植前后尿草酸排泄情况、目前的肾功能、生存情况及并发症。
23例未接受移植的患儿中，9例死于与严重全身性草酸中毒相关的并发症，14例存活（平均随访7.4年），其中2例为移植候选者。仅接受肾移植的患儿死于无关原因。12例肝移植受者中，2例在移植后3个月内死亡，另1例患儿因肝动脉血栓形成接受了再次移植。在移植后6至54个月的不同时间点，10例受者存活（9例肝肾联合移植受者中的7例和3例抢先肝移植受者全部存活）。10例存活者的平均肾小球滤过率（GFR）为77 ml/min/m²。这10例中的9例，每日尿草酸排泄恢复正常。肾功能有所改善（平均GFR从58 ml/min/m²升至86 ml/min/m²），但3例单纯肝移植受者的肾脏草酸沉积仍然存在。
我们对PH-1患儿长达十年的治疗经验支持早期诊断和及时肝移植的策略。对于在婴儿期发病的患儿或病情进展缓慢且出现明显症状的患儿，应考虑抢先进行单纯肝移植。对于终末期肾病患儿，建议进行肝肾联合移植。
