Centre de Référence des Maladies Rénales Rares, Hospices Civils de Lyon, France.
Curr Opin Organ Transplant. 2010 Oct;15(5):590-3. doi: 10.1097/MOT.0b013e32833e35f5.
Primary hyperoxaluria type 1, the most common form of primary hyperoxaluria, is an autosomal recessive disorder caused by a deficiency of the liver-specific enzyme alanine:glyoxylate aminotransferase. This results in increased synthesis and subsequent urinary excretion of the metabolic end-product oxalate and the deposition of insoluble calcium oxalate in the kidney and urinary tract. As glomerular filtration rate decreases due to progressive renal involvement, oxalate accumulates and results in systemic oxalosis.
Diagnosis is still often delayed. It is mainly established on the basis of clinical and sonographic findings, urinary oxalate ± glycolate assessment, and DNA analysis.
Following specific conservative measures, the ultimate management is based on organ transplantation. Correction of the enzyme defect by liver transplantation should be planned before systemic oxalosis develops to optimize outcomes and may be either simultaneous (immunological benefit) or sequential (biochemical benefit) liver-kidney transplantation depending on disease staging, facilities, and access to deceased or living donors. Allograft and patient survival currently approaches that of transplant patients with kidney transplantation alone and with other diseases requiring combined liver-kidney transplantation. In addition, this strategy has also provided significant improvement in both quality of life and statural growth.
1 型原发性高草酸尿症是最常见的原发性高草酸尿症，是一种常染色体隐性遗传病，由肝脏特异性酶丙氨酸：乙醛酸氨基转移酶缺乏引起。这会导致代谢终产物草酸的合成增加和随后的尿排泄增加，以及不溶性草酸钙在肾脏和泌尿道中的沉积。由于进行性肾损伤导致肾小球滤过率降低，草酸积聚并导致全身草酸中毒。
诊断仍经常延迟。它主要基于临床和超声检查结果、尿草酸±乙二醇评估和 DNA 分析来建立。
在采取特定的保守措施后，最终的治疗方案基于器官移植。应在发生系统性草酸中毒之前通过肝移植纠正酶缺陷，以优化结果，根据疾病分期、设施和获得已故或活体供体的情况，可以选择同时（免疫获益）或序贯（生化获益）肝-肾移植。目前，同种异体移植物和患者的存活率接近仅接受肾移植和其他需要联合肝-肾移植的疾病的移植患者。此外，该策略还显著改善了生活质量和身高增长。
