Freedman B I, Wilson C H, Spray B J, Tuttle A B, Olorenshaw I M, Kammer G M
Department of Internal Medicine, The Bowman Gray School of Medicine of Wake Forest University, Winston-Salem, NC 27157-1053, USA.
Am J Kidney Dis. 1997 May;29(5):729-32. doi: 10.1016/s0272-6386(97)90126-8.
The factors that determine a patient's susceptibility to specific target organ involvement in systemic lupus erythematosus (SLE) remain unknown. Lupus nephritis can be a particularly devastating complication, with an increased mortality and the risk of progressive renal damage resulting in end-stage renal disease (ESRD). This analysis was performed to determine whether renal disease aggregated in select families or was a sporadic complication in patients with SLE. We compared the family history of ESRD in 50 patients with SLE complicated by lupus nephritis with 37 controls who had SLE but lacked nephritis after a mean follow-up duration of more than 11 years. The frequency of relatives with ESRD in the lupus nephritis cases was compared with that in controls using Fisher's exact test (significance at P < or = 0.05). Fifty percent (25) of the 50 lupus nephritis patients were black and 50% (25) white, in contrast to 35% (13) and 65% (24) of the 37 lupus non-nephropathy controls, respectively. A first-, second-, or third-degree relative with ESRD was present in 16% (eight) of the 50 lupus nephritis cases and in 0% of the 37 SLE non-nephropathy controls (P = 0.019, Fisher's exact test, two-tail). Twenty-eight percent (seven) of the 25 black patients with lupus nephritis had relatives with ESRD compared with 0% of the 13 black lupus non-nephritis controls (P = 0.07). Only one of the eight relatives with ESRD had SLE or a collagen vascular disease. Lupus nephritis patients and the non-nephritis controls had similar ages (mean +/- SD: 38.5 +/- 10.0 years v 46.6 +/- 11.8 years; P = 0.28), family sizes (6.27 +/- 2.61 first-degree relatives v 6.35 +/- 3.25 first-degree relatives; P = 0.16), and duration of SLE (9.26 +/- 5.94 years v 11.35 +/- 6.43 years; P = 0.60). Familial clustering of ESRD was observed in black patients with SLE who had nephritis. This was unlikely to be related to differences in patient age, family size, or duration of SLE. This data, coupled with the known familial aggregation of ESRD in blacks with hypertensive and diabetic ESRD, supports the contention that genetic factors contribute to the familial clustering. The presence of relatives with etiologies of ESRD other than SLE suggests that there is an inherited susceptibility to progressive renal failure, independent of the etiology of ESRD.
决定系统性红斑狼疮（SLE）患者对特定靶器官受累易感性的因素尚不清楚。狼疮性肾炎可能是一种特别具有破坏性的并发症，死亡率增加，且有进行性肾损害导致终末期肾病（ESRD）的风险。进行这项分析是为了确定肾病在特定家族中是否聚集，还是SLE患者中的一种散发性并发症。我们比较了50例并发狼疮性肾炎的SLE患者与37例SLE但无肾炎的对照者的ESRD家族史，平均随访时间超过11年。使用Fisher精确检验比较狼疮性肾炎病例组和对照组中患有ESRD亲属的频率（P≤0.05具有统计学意义）。50例狼疮性肾炎患者中50%（25例）为黑人，50%（25例）为白人，相比之下，37例非狼疮性肾炎对照者中分别为35%（13例）和65%（24例）。50例狼疮性肾炎病例中有16%（8例）有ESRD的一级、二级或三级亲属，而37例SLE非肾炎对照者中这一比例为0%（P = 0.019，Fisher精确检验，双侧）。25例黑人狼疮性肾炎患者中有28%（7例）有ESRD亲属，而13例黑人非狼疮性肾炎对照者中这一比例为0%（P = 0.07）。8例有ESRD的亲属中只有1例患有SLE或胶原血管病。狼疮性肾炎患者和非肾炎对照者的年龄相似（平均±标准差：38.5±10.0岁对46.6±11.8岁；P = 0.28），家庭规模相似（一级亲属平均6.27±2.61人对6.35±3.25人；P = 0.16），SLE病程相似（9.26±5.94年对11.35±6.43年；P = 0.60）。在患有肾炎的黑人SLE患者中观察到ESRD的家族聚集现象。这不太可能与患者年龄、家庭规模或SLE病程的差异有关。这些数据，再加上已知黑人高血压和糖尿病ESRD患者中ESRD的家族聚集现象，支持了遗传因素导致家族聚集的观点。有ESRD病因不是SLE的亲属的存在表明，存在对进行性肾衰竭的遗传易感性，与ESRD的病因无关。
