Latta A, Müller-Wiefel D E, Sturm E, Kemper M, Burdelski M, Broelsch C E
Universitätskinderklinik Eppendorf, Hamburg, Germany.
Clin Nephrol. 1996 Jul;46(1):21-3.
Primary hyperoxaluria type 1 (PH 1) is complicated by a high rate of early end-stage renal failure (ESRF). In ESRF combined liver kidney transplantation has emerged as treatment of choice for teenagers and adults. In chronic renal failure (CRF) and for small children the situation is less clear. We report on three isolated liver transplantations and show the data of young children from the European Registry for liver transplantation in PH 1. Patient #1 developed ESRF at 3 months of age. Deficiency of alanine:glyoxylate aminotransferase proved PH 1. Progressive bone disease developed and the boy received a living related liver graft (LRLTx) at age two. Due to recurrent cholangitis kidney transplantation (KTx) is currently not feasible. Plasma oxalate decreased after LRLTx indicating correction of the metabolic defect. Patient #2 was diagnosed at the age of 14 months. He had nephrocalcinosis and hyperglycolic hyperoxaluria. Two years later he developed ESRF. At 5 years of age isolated liver transplantation was performed as a first step of therapy. Due to prolonged warm ischemia time organ function was poor. A severe bleeding complicated the course. The child died four weeks after transplantation from untreatable CMV septicemia. Patient #3 was evaluated for failure to thrive at 6 months of age. Urinary oxalate/creatinine ratio was 705 mumol/mol and gave rise to the diagnosis of PH 1. Renal failure slowly progressed to a creatinine clearance of 20 ml/min/1.73 m2 at 8 years, when liver transplantation (LTx) was performed. Four months later, GFR has not changed. Liver function and urinary oxalate/creatinine ratio are normal. Slowly deteriorating chronic renal failure can be stabilized through isolated liver transplantation and thus the rapid need for KTx will at least be delayed. Even more important, normalization of the oxalate metabolism prevents extrarenal oxalate deposits during renal failure.
1型原发性高草酸尿症（PH 1）常并发早期终末期肾衰竭（ESRF），且发生率较高。在ESRF患者中，肝肾联合移植已成为青少年和成人的首选治疗方法。对于慢性肾衰竭（CRF）患者和小儿患者，情况尚不明朗。我们报告了3例单纯肝移植病例，并展示了欧洲PH 1肝移植登记处的小儿患者数据。病例1在3个月大时出现ESRF。丙氨酸：乙醛酸转氨酶缺乏确诊为PH 1。逐渐发展为骨病，该男孩在2岁时接受了活体亲属肝移植（LRLTx）。由于复发性胆管炎，目前无法进行肾移植（KTx）。LRLTx后血浆草酸盐降低，表明代谢缺陷得到纠正。病例2在14个月大时被诊断出患病。他患有肾钙质沉着症和高草酸尿性高草酸血症。两年后他发展为ESRF。5岁时，作为治疗的第一步进行了单纯肝移植。由于热缺血时间延长，器官功能较差。严重出血使病程复杂化。该患儿在移植后四周死于无法治疗的巨细胞病毒败血症。病例3在6个月大时因生长发育迟缓接受评估。尿草酸盐/肌酐比值为705 μmol/mol，由此诊断为PH 1。肾衰竭缓慢进展，8岁时肌酐清除率降至20 ml/min/1.73 m²，此时进行了肝移植（LTx）。四个月后，肾小球滤过率（GFR）未变。肝功能和尿草酸盐/肌酐比值正常。单纯肝移植可稳定缓慢恶化的慢性肾衰竭，从而至少延缓对KTx的迫切需求。更重要的是，草酸盐代谢正常化可防止肾衰竭期间肾外草酸盐沉积。
