原发性高草酸尿症（乙醇酸变体）：8例临床及遗传学研究

Primary hyperoxaluria (glycolic acid variant): a clinical and genetical investigation of eight cases.

作者信息

Holmgren G, Hörnström T, Johansson S, Samuelson G

出版信息

Ups J Med Sci. 1978;83(1):65-70. doi: 10.3109/03009737809179114.

Abstract

The clinical features of eight cases of primary hyperoxaluria have been summarized. The possibility of different phenotypes is discussed. A reduction, but no normalization, of the oxalate formation during pyridoxine therapy was found. A renal transplantation performed in one of the patients failed because of the formation of nephrocalcinosis.

摘要

总结了8例原发性高草酸尿症患者的临床特征。讨论了不同表型的可能性。发现在维生素B6治疗期间草酸盐生成有所减少，但未恢复正常。其中1例患者进行的肾移植因肾钙质沉着症的形成而失败。