Mallett Andrew, Patel Chirag, Salisbury Anne, Wang Zaimin, Healy Helen, Hoy Wendy
Department of Renal Medicine, Royal Brisbane and Women's Hospital, Brisbane, Australia.
Orphanet J Rare Dis. 2014 Jun 30;9:98. doi: 10.1186/1750-1172-9-98.
There are an established and growing number of Mendelian genetic causes for chronic kidney disease (CKD) in adults, though estimates of prevalence have been speculative. The CKD Queensland (CKD.QLD) registry enables partial clarification of this through the study of adults with CKD receiving nephrology care throughout Queensland, Australia.
Data from the first 2,935 patients consented to the CKD.QLD registry across five sites was analysed, with a comparison between those with and without Genetic Renal Disease (GRD). Prevalence of GRD amongst those with diagnosed CKD, the general population, and commencing renal replacement therapy (RRT) was calculated using the CKD.QLD registry, national census data and extracted Australian and New Zealand Dialysis and Transplantation (ANZDATA) registry report data respectively.
Patients with GRD constituted 9.8% of this Australian adult CKD cohort (287/2935). This was lower than in local incident RRT cohorts (2006-2011: 9.8% vs 11.3%, x2 = 0.014). Cases of adult CKD GRD were more likely to be female (54.0% vs 45.6%; x2 = 0.007), younger (mean 52.6 yrs vs 69.3 yrs, p < 0.001), have a higher eGFR (mean 49.7 ml/min/1.73 m2 vs 40.4 ml/min/1.73 m2, p < 0.001), and have earlier stage renal disease (CKD Stage 1: 15.7% vs 5.1%, x2 < 0.0005) than those without GRD.
The proportion of GRD amongst an Australian adult CKD population in specialty renal practice is similar to past estimations. GRD is a significant cause for CKD and for RRT commencement, presenting opportunities for ongoing longitudinal study, directed therapeutics and clinical service redesign.
成人慢性肾脏病（CKD）的孟德尔遗传病因数量既定且不断增加，尽管患病率估计一直是推测性的。昆士兰慢性肾脏病（CKD.QLD）登记处通过对澳大利亚昆士兰接受肾脏病护理的成年CKD患者进行研究，部分澄清了这一情况。
分析了来自五个地点同意加入CKD.QLD登记处的前2935名患者的数据，并对患有和未患有遗传性肾脏病（GRD）的患者进行了比较。分别使用CKD.QLD登记处数据、全国人口普查数据以及提取的澳大利亚和新西兰透析与移植（ANZDATA）登记处报告数据，计算了确诊CKD患者、普通人群以及开始肾脏替代治疗（RRT）患者中GRD的患病率。
GRD患者占该澳大利亚成年CKD队列的9.8%（287/2935）。这低于当地新发病例RRT队列（2006 - 2011年：9.8%对11.3%，x² = 0.014）。成年CKD GRD病例比无GRD病例更可能为女性（54.0%对45.6%；x² = 0.007）、更年轻（平均52.6岁对69.3岁，p < 0.001）、估算肾小球滤过率（eGFR）更高（平均49.7 ml/min/1.73 m²对40.4 ml/min/1.73 m²，p < 0.001），且肾病阶段更早（CKD 1期：15.7%对5.1%，x² < 0.0005）。
在专科肾脏实践中，澳大利亚成年CKD人群中GRD的比例与过去估计相似。GRD是CKD和开始RRT的重要原因，为持续的纵向研究、定向治疗和临床服务重新设计提供了机会。
