Beck B B, Hoppe B
Division of Pediatric Nephrology, University Children's Hospital, Cologne, Germany.
Kidney Int. 2006 Sep;70(6):984-6. doi: 10.1038/sj.ki.5001797.
There is ongoing debate about a genotype-phenotype correlation in patients with primary hyperoxaluria type 1 and specific AGXT mutations. However, other determinants like environmental factors or modifer genes may play a pivotal role in the heterogeneity of the disease. The report of Lorenzo and co-workers highlights this situation, presenting data of a whole population with just one specific AGXT mutation.
关于1型原发性高草酸尿症患者的基因型与表型相关性以及特定的AGXT突变，目前仍存在争议。然而，其他决定因素，如环境因素或修饰基因，可能在该疾病的异质性中起关键作用。洛伦佐及其同事的报告突出了这种情况，展示了仅有一种特定AGXT突变的整个人群的数据。
