Dicks Elizabeth, Ravani Pietro, Langman Deanna, Davidson William S, Pei York, Parfrey Patrick S
Clinical Epidemiology Unit and Division of Nephrology, Memorial University of Newfoundland, St. John's, Newfoundland, Canada.
Clin J Am Soc Nephrol. 2006 Jul;1(4):710-7. doi: 10.2215/CJN.01581105. Epub 2006 Jun 8.
For determination of the incidence of renal events in autosomal dominant polycystic kidney disease (ADPKD) all patients who had ADPKD and attended nephrology/urology clinics in Newfoundland in 1981 were identified, and members of 18 families who were at 50% risk for inheriting ADPKD were followed prospectively for 22 yr, including research clinics at 6-yr intervals. Time to hypertension treatment, stage 3 chronic kidney disease (CKD), ESRD, and death was measured, and the impact of genotype, gender, gender of parent who transmitted PKD, family, family history of essential hypertension, parity, and oral contraceptive pill was assessed. Nine (50%) families had PKD1, four (22%) had PKD2, and one had both PKD1 and PKD2. The number of family members with PKD1 was 136 and with PKD2 was 60. In PKD1 median age to hypertension treatment was 46 yr, to CKD stage 3 was 50 yr, to ESRD was 53 yr, and to death was 67 yr. In PKD2, median age to hypertension treatment was 51 yr, to CKD stage 3 was 66 yr, to death was 71 yr, and ESRD was infrequent. Although the incidence of CKD was later and ESRD occurred infrequently in PKD2 compared with PKD1, early onset of hypertension occurred and life expectancy was compromised. Genotype, family, and proteinuria were identified as risk factors for incident renal events. Gender, gender of parent who transmitted PKD, family history of essential hypertension, multiparity, and use of the oral contraceptive pill were not identified as risk factors for renal events in ADPKD.
为了确定常染色体显性遗传性多囊肾病（ADPKD）患者发生肾脏事件的发生率，我们对1981年在纽芬兰肾病科/泌尿科门诊就诊的所有ADPKD患者进行了识别，并对18个有50%遗传ADPKD风险的家族成员进行了为期22年的前瞻性随访，随访期间包括每6年进行一次研究门诊检查。记录开始高血压治疗、进入3期慢性肾脏病（CKD）、终末期肾病（ESRD）和死亡的时间，并评估基因型、性别、传递PKD的父母性别、家族、原发性高血压家族史、产次和口服避孕药的影响。9个（50%）家族携带PKD1，4个（22%）家族携带PKD2，1个家族同时携带PKD1和PKD2。携带PKD1的家族成员有136人，携带PKD2的有60人。在携带PKD1的患者中，开始高血压治疗的中位年龄为46岁，进入CKD 3期的中位年龄为50岁，进入ESRD的中位年龄为53岁，死亡的中位年龄为67岁。在携带PKD2的患者中，开始高血压治疗的中位年龄为51岁，进入CKD 3期的中位年龄为66岁，死亡的中位年龄为71岁，ESRD较少见。尽管与PKD1相比，PKD2患者发生CKD的时间较晚且ESRD较少见，但高血压发病较早且预期寿命缩短。基因型、家族和蛋白尿被确定为发生肾脏事件的危险因素。性别、传递PKD的父母性别、原发性高血压家族史、多产和口服避孕药的使用未被确定为ADPKD患者发生肾脏事件的危险因素。
