Division of Pediatric Nephrology, Department of Pediatrics, University Hospital Cologne, Cologne, Germany.
Kidney Int. 2010 Mar;77(5):383-5. doi: 10.1038/ki.2009.471.
A genotype-phenotype correlation in patients with primary hyperoxaluria type 1 and specific AGXT mutations has supposedly been found, at least for sensitivity to medication and long-term outcome. Nevertheless, other determinants, such as environmental factors or modifier genes, must play an essential role in the intra- and interfamilial heterogeneity of this disease. Harambat and co-workers report on this situation, presenting data on a major population of genotyped patients.
据报道，在原发性高草酸尿症 1 型患者和特定 AGXT 突变患者中，基因型-表型相关性至少与药物敏感性和长期预后有关。然而，其他决定因素，如环境因素或修饰基因，在这种疾病的个体内和个体间异质性中必然发挥重要作用。Harambat 及其同事报告了这种情况，并提供了关于主要基因型患者群体的数据。
