Freedman Barry I, Volkova Nataliya V, Satko Scott G, Krisher Jenna, Jurkovitz Claudine, Soucie J Michael, McClellan William M
Department of Internal Medicine, Section on Nephrology, Wake Forest University School of Medicine, Winston-Salem, NC 27157-1053, USA.
Am J Nephrol. 2005 Nov-Dec;25(6):529-35. doi: 10.1159/000088491. Epub 2005 Sep 21.
We determined the familial aggregation of end-stage renal disease (ESRD) in a large, population-based sample of incident ESRD cases to assess the feasibility of developing a targeted screening and prevention program directed at members of families at high risk for kidney disease.
Between January 1, 1995, and December 31, 2003, incident dialysis patients in ESRD Network 6 facilities were asked to complete a voluntary questionnaire on family history (FH) of ESRD. Cases with ESRD attributed to Mendelian diseases or urologic causes were excluded. FH was considered present if first- or second-degree relatives had ESRD. De-identified FH data were collated with demographic data at dialysis initiation.
More than 46% of eligible patients (25,883/55,929) provided FH information and 22.8% (5,901/25,883) of these reported having a FH of ESRD. FH of ESRD was positively associated with female gender, earlier age at ESRD onset, and primary cause of ESRD, and negatively associated with white race. FH associations with age, race, gender, and primary cause of renal failure remained statistically significant after simultaneous adjustment in a multivariate logistic regression model.
Approximately 23% of incident dialysis patients have close relatives with ESRD. Far more are likely to have relatives with clinically silent proteinuria or chronic kidney disease (CKD), both risk factors for future cardiovascular events and ESRD. Physicians caring for patients with CKD should be aware of the marked familial aggregation of ESRD and consider focusing screening efforts on high-risk family members in an attempt to slow the exponential growth rate of kidney disease.
我们在一个基于人群的大型新发终末期肾病（ESRD）病例样本中确定了ESRD的家族聚集性，以评估针对肾病高危家族成员开展有针对性的筛查和预防项目的可行性。
在1995年1月1日至2003年12月31日期间，ESRD网络6设施中的新发透析患者被要求完成一份关于ESRD家族史（FH）的自愿调查问卷。由孟德尔疾病或泌尿系统原因导致的ESRD病例被排除。如果一级或二级亲属患有ESRD，则认为存在FH。将去识别化的FH数据与透析开始时的人口统计学数据进行整理。
超过46%的符合条件患者（25,883/55,929）提供了FH信息，其中22.8%（5,901/25,883）报告有ESRD的FH。ESRD的FH与女性性别、ESRD发病年龄较早以及ESRD的主要病因呈正相关，与白人种族呈负相关。在多变量逻辑回归模型中进行同时调整后，FH与年龄、种族、性别和肾衰竭主要病因之间的关联仍具有统计学意义。
约23%的新发透析患者有患ESRD的近亲。更多患者可能有亲属患有临床无症状蛋白尿或慢性肾脏病（CKD），这两者都是未来心血管事件和ESRD的危险因素。照顾CKD患者的医生应意识到ESRD存在明显的家族聚集性，并考虑将筛查工作重点放在高危家庭成员身上，以试图减缓肾病的指数增长速度。
