PDF(Pubmed)
Abstract：
Despite increasing awareness of genetic kidney disease prevalence, there is limited population-level information about long term outcomes of people with genetic kidney disease receiving kidney replacement therapy. This analysis included people who commenced kidney replacement therapy between 1989 and 2020 as recorded in the Australian and New Zealand Dialysis and Transplant registry. Genetic kidney diseases were subclassified as majority and minority monogenic. Non-genetic kidney diseases were included as the comparator group. Primary outcome measures were 10-year mortality and 10-year graft failure. Cox proportional hazard regression were used to calculate unadjusted and adjusted hazard ratios (AHRs) for primary outcomes. There were 59,231 people in the dialysis subgroup and 21,860 people in the transplant subgroup. People on dialysis with genetic kidney diseases had reduced 10-year mortality risk (majority monogenic AHR: 0.70, 95% CI 0.66-0.76; minority monogenic AHR 0.86, 95% CI 0.80-0.92). This reduced 10-year mortality risk continued after kidney transplantation (majority monogenic AHR: 0.82, 95% CI 0.71-0.93; minority monogenic AHR 0.80, 95% CI 0.68-0.95). Majority monogenic genetic kidney diseases were associated with reduced 10-year graft failure compared to minority monogenic genetic kidney diseases and other kidney diseases (majority monogenic AHR 0.69, 95% CI 0.59-0.79). This binational registry analysis identified that people with genetic kidney disease have different mortality and graft failure risks compared to people with other kidney diseases.
摘要：
尽管人们对遗传性肾病患病率的认识不断提高，关于遗传性肾病患者接受肾脏替代治疗的长期结局的人群水平信息有限.这项分析包括1989年至2020年期间开始肾脏替代疗法的人，如澳大利亚和新西兰透析和移植登记处记录的那样。遗传性肾脏疾病被细分为多数和少数单基因。非遗传性肾病作为比较组。主要结果指标是10年死亡率和10年移植物衰竭。Cox比例风险回归用于计算主要结局的未调整和调整的风险比（AHR）。透析亚组有59,231人，移植亚组有21,860人。患有遗传性肾脏疾病的透析患者10年死亡风险降低（多数单基因AHR：0.70，95％CI0.66-0.76；少数单基因AHR0.86，95％CI0.80-0.92）。肾移植后10年死亡率风险继续降低（多数单基因AHR：0.82，95％CI0.71-0.93；少数单基因AHR0.80，95％CI0.68-0.95）。与少数单基因遗传性肾脏疾病和其他肾脏疾病相比，多数单基因遗传性肾脏疾病与减少的10年移植物衰竭相关（多数单基因AHR0.69，95％CI0.59-0.79）。这项双边注册分析发现，与其他肾脏疾病患者相比，遗传性肾脏疾病患者的死亡率和移植物衰竭风险不同。
