Butkus Donald E
Department of Medicine, Division of Nephrology, University of Mississippi Medical Center, Jackson, MS 39216, USA.
J Miss State Med Assoc. 2002 Mar;43(3):71-7.
Familial clustering of ESRD has been noted in the families of 20-40% of African-Americans (AA) with ESRD but has been observed much less often in Caucasians (Cau). Because our impression indicated a higher frequency in Caucasians than reported in several recent studies we conducted a 2-year prospective evaluation of patients referred for renal transplantation to assess the frequency of familial clustering of ESRD in both Caucasians and African-Americans.
Detailed family histories were obtained in 350 ESRD patients referred for renal transplantation, 335 of whom could provide appropriate information regarding first- and second-degree family members (252AA and 83 Cau) who were maintained on out-patient dialysis at least one month or had received a renal transplant.
Patient race and sex paralleled that of the current Mississippi ESRD population but mean age was 17 years younger in the transplant candidates (39.9 vs. 57.2 yrs). If polycystic kidney disease (PKD) is included in the analysis, 31.7% of AA and 30.1% of Cau had at least one other family member with ESRD. If PKD is eliminated then 30.9% of AA and 25% of Cau had at least one other family member with ESRD. In both races the frequency of a positive family history was greatest in index cases with chronic glomerulonephritis, and of those with renal biopsies (n = 59), patients with focal segmental glomerulosclerosis (FSGS) and systemic lupus erythematosus (SLE) had the strongest family histories of ESRD (40% and 36%, respectively). Cau and AA with FSGS had comparable familial clustering of ESRD (41% vs, 38%) but SLE was confined to AA.
In younger individuals with ESRD, familial clustering of end stage renal disease occurs with almost equal frequency in Caucasians and in African Americans. Screening of family members of index cases in both races might define a high-risk group of patients in whom prophylactic measures might be directed to thwart the progression [table: see text] of renal failure.
终末期肾病（ESRD）的家族聚集现象在20% - 40%患ESRD的非裔美国人（AA）家庭中已被注意到，但在白种人（Cau）家庭中观察到的频率要低得多。由于我们的印象显示白种人中的频率高于最近几项研究报告的频率，我们对转诊进行肾移植的患者进行了为期2年的前瞻性评估，以评估白种人和非裔美国人中ESRD家族聚集的频率。
我们获取了350名转诊进行肾移植的ESRD患者的详细家族史，其中335名患者能够提供关于其一级和二级家庭成员（252名非裔美国人及83名白种人）的适当信息，这些家庭成员至少接受了1个月的门诊透析或接受了肾移植。
患者的种族和性别与当前密西西比州ESRD人群相似，但移植候选者的平均年龄比其小17岁（39.9岁对57.2岁）。如果将多囊肾病（PKD）纳入分析，31.7%的非裔美国人及30.1%的白种人至少有一名其他家庭成员患有ESRD。如果排除PKD，那么30.9%的非裔美国人及25%的白种人至少有一名其他家庭成员患有ESRD。在两个种族中，慢性肾小球肾炎患者的家族史阳性频率最高，在接受肾活检的患者中（n = 59），局灶节段性肾小球硬化（FSGS）和系统性红斑狼疮（SLE）患者的ESRD家族史最强（分别为40%和36%）。患有FSGS的白种人和非裔美国人的ESRD家族聚集情况相当（41%对38%），但SLE仅见于非裔美国人。
在较年轻的ESRD个体中，终末期肾病的家族聚集在白种人和非裔美国人中出现的频率几乎相等。对两个种族中索引病例的家庭成员进行筛查可能会确定一个高危患者群体，针对该群体可采取预防措施以阻止肾衰竭的进展[表格：见正文]。
