Kemper M J, Conrad S, Müller-Wiefel D E
Department of Urology, University Hospital Eppendorf, Hamburg, Germany.
Eur J Pediatr. 1997 Jul;156(7):509-12. doi: 10.1007/s004310050649.
Primary hyperoxaluria type 2 (PH2) is a rare disease with only 24 patients reported in the literature so far. It should be considered in any patient presenting with urolithiasis or nephrocalcinosis due to hyperoxaluria. The metabolic defect is deficiency of D-glycerate dehydrogenase/glyoxylate reductase leading to characteristic hyperoxaluria and excretion of L-glycerate, the cornerstone of diagnosis of PH 2. Although development of terminal renal failure seems to be less prevalent than in PH 1, recent reports indicate that chronic as well as terminal renal insufficiency may occur. Therefore specific therapeutic measures should aim at reduction of urinary calcium oxalate saturation by potassium citrate or pyrophosphate to reduce the incidence of nephrolithiasis and nephrocalcinosis and thus improve renal survival. Secondary complications (obstruction, urinary tract infections and pyelonephritis) must be avoided. In patients with terminal renal failure isolated renal transplantation seems to carry a high risk of disease recurrence.
PH 2 is a rare but important cause of urolithiasis and nephrocalcinosis; long-term follow up is necessary, since the renal prognosis may be worse than previously anticipated.
2型原发性高草酸尿症（PH2）是一种罕见疾病，迄今为止文献中仅报道了24例患者。任何因高草酸尿症出现尿路结石或肾钙质沉着症的患者都应考虑该病。代谢缺陷是D-甘油酸脱氢酶/乙醛酸还原酶缺乏，导致特征性高草酸尿症和L-甘油酸排泄，这是PH2诊断的关键。虽然终末期肾衰竭的发展似乎不如PH1常见，但最近的报告表明可能会发生慢性以及终末期肾功能不全。因此，特定的治疗措施应旨在通过柠檬酸钾或焦磷酸盐降低草酸钙尿饱和度，以降低尿路结石和肾钙质沉着症的发生率，从而提高肾脏存活率。必须避免继发性并发症（梗阻、尿路感染和肾盂肾炎）。在终末期肾衰竭患者中，单纯肾移植似乎有很高的疾病复发风险。
PH2是尿路结石和肾钙质沉着症的罕见但重要原因；由于肾脏预后可能比先前预期的更差，因此有必要进行长期随访。
