Raju Dharmapaul L, Cantarovich Marcelo, Brisson Marie-Laure, Tchervenkov Jean, Lipman Mark L
Division of Nephrology, McGill University Health Center, Montreal, Quebec, Canada.
Am J Kidney Dis. 2008 Jan;51(1):e1-5. doi: 10.1053/j.ajkd.2007.08.027.
Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive metabolic disorder resulting in the overproduction of plasma oxalate. Although the enzymatic defect is in hepatocyte peroxisomes, uncontrolled levels of oxalate result in calcium oxalate deposition in multiple organs. Because the primary route of elimination of oxalate is renal excretion, high levels are found in urine, which results in supersaturation and crystal nucleation. Patients typically present with recurrent nephrolithiasis and nephrocalcinosis. If not diagnosed early, end-stage renal disease (ESRD) and systemic calcium oxalate deposition can occur. Once ESRD develops, intensive dialysis therapy is unable to keep pace with the high oxalate production, and the preferred therapeutic intervention is combined kidney-liver transplantation. Here, we report a young man with a history of recurrent nephrolithiasis who presented to us with ESRD and subsequently developed manifestations of systemic oxalosis. The diagnosis of PH1 must be considered in the differential diagnosis of patients presenting with ESRD with a history of recurrent nephrolithiasis. The diagnosis of PH1 is more challenging in patients with ESRD, for whom urinary oxalate levels are often normal or only modestly increased because of decreased glomerular filtration, and recurrent nephrolithiasis is no longer the dominant clinical feature.
1型原发性高草酸尿症（PH1）是一种罕见的常染色体隐性代谢紊乱疾病，会导致血浆草酸盐过度产生。尽管酶缺陷存在于肝细胞过氧化物酶体中，但草酸盐水平失控会导致草酸钙在多个器官中沉积。由于草酸盐的主要排泄途径是通过肾脏，所以尿液中草酸盐含量很高，这会导致过饱和和晶体成核。患者通常表现为复发性肾结石和肾钙质沉着症。如果不及早诊断，可能会出现终末期肾病（ESRD）和全身性草酸钙沉积。一旦发展为ESRD，强化透析治疗无法跟上高草酸盐的产生速度，首选的治疗干预措施是肝肾联合移植。在此，我们报告一名有复发性肾结石病史的年轻男性，他因ESRD前来就诊，随后出现了全身性草酸中毒的表现。对于有复发性肾结石病史且患有ESRD的患者，鉴别诊断时必须考虑PH1的诊断。对于ESRD患者，PH1的诊断更具挑战性，因为肾小球滤过率降低，他们的尿草酸盐水平通常正常或仅略有升高，而且复发性肾结石不再是主要的临床特征。
