Scheinman J I
Medical College of Virginia, Richmond 23298-0498, USA.
Miner Electrolyte Metab. 1994;20(6):340-51.
Primary hyperoxaluria (PH) is a rare inborn error of amino acid metabolism, now genetically defined, that results in excessive production and urinary excretion of oxalate. It serves as a model of severe nephrolithiasis that requires management of urinary supersaturation to prevent the common outcome of renal failure, which can be the presenting finding: the continued oxalate excess than causes progressive systemic oxalosis (deposition). Routine kidney transplantation almost invariably fails, but a (live donor) protocol that reduces danger of the accumulated load of oxalate can reduce the risk of recurrence. The attractive (and curative) option of combined kidney/liver transplant has considerably greater risk of mortality (in the US), although the European experience is considerably better, often employed earlier in the course. Key to appropriate decisions are early recognition, certain diagnosis, testing for vitamin B6 response, and immediate planning for definitive therapy when renal function is failing. PH provides one example of the absolute need for workup of the metabolic causes of stone disease.
原发性高草酸尿症（PH）是一种罕见的先天性氨基酸代谢紊乱疾病，目前已从基因层面明确，其导致草酸盐过度生成并经尿液排泄。它是严重肾结石的一个典型病例，需要对尿液过饱和状态进行管理，以预防肾衰竭这一常见结局，而肾衰竭可能是首发症状：持续的草酸盐过量会导致进行性全身性草酸沉积。常规肾移植几乎总会失败，但一种（活体供体）方案可降低草酸盐累积负荷的风险，从而降低复发风险。联合肾/肝移植这一有吸引力（且可治愈）的选择在美国有相当高的死亡风险，不过欧洲的经验要好得多，且常在病程早期采用。做出恰当决策的关键在于早期识别、明确诊断、检测维生素B6反应，以及在肾功能衰竭时立即制定确定性治疗方案。PH是一个绝对需要对结石病的代谢病因进行检查的实例。
