Toussaint C, De Pauw L
Département médico-chirurgical de néphrologie, dialyse et transplantation, Cliniques universitaires de Bruxelles, Hôpital Erasme, Bruxelles.
Nephrologie. 1995;16(6):399-406.
Primary hyperoxalurias are inborn errors of metabolism with recessive autosomal transmission. Type 1 is due to the deficiency of the hepatic-specific peroxisomal enzyme alanine: glyoxylate aminotransferase, and type 2 to that of the glyoxylate reductase/D-glycerate dehydrogenase, present in the cytosol of hepatocytes and leucocytes. Type 3 is due to increased intestinal absorption of oxalate of unknown pathophysiology. In the 3 types, increased oxalate load may lead to systemic oxalosis when glomerular filtration rate decreases below 30 ml/min/1.73 m2, calcium oxalate saturation occurring in plasma when oxalate level approximates 50 mumol/l. High fluid intake and long-term co-administration of pyridoxine and orthophosphate could perhaps efficiently prevent renal failure in a majority of patients. However, combined liver-kidney transplantation presently constitutes the most adequate therapy of end-stage renal failure in type 1 and perhaps in type 2 hyperoxaluria.
原发性高草酸尿症是常染色体隐性遗传的先天性代谢缺陷病。1型是由于肝脏特异性过氧化物酶体酶丙氨酸：乙醛酸氨基转移酶缺乏所致，2型是由于存在于肝细胞和白细胞胞质中的乙醛酸还原酶/D-甘油酸脱氢酶缺乏所致。3型是由于肠道对草酸盐的吸收增加，其病理生理机制不明。在这三种类型中，当肾小球滤过率降至30 ml/min/1.73 m2以下时，草酸盐负荷增加可能导致全身性草酸盐沉着症，当草酸盐水平接近50 μmol/l时，血浆中会出现草酸钙饱和。大量饮水以及长期联合使用吡哆醇和正磷酸盐或许能有效预防大多数患者出现肾衰竭。然而，目前肝肾联合移植是1型以及可能2型高草酸尿症终末期肾衰竭最适宜的治疗方法。
