Volume 67, Issue 4, Pages 1256-1267 (April 2005) Modifier genes play a significant role in the phenotypic expression of PKD11  Pamela R. Fain, Kimberly K. McFann, Matthew R.G. Taylor, Maryellyn Tison, Ann M. Johnson, Berenice Reed, Robert W. Schrier  Kidney International  Volume 67, Issue 4, Pages 1256-1267 (April 2005) DOI: 10.1111/j.1523-1755.2005.00203.x Copyright © 2005 International Society of Nephrology Terms and Conditions

Figure 1 Survival time to end-stage renal disease (ESRD). The study included 315 patients with autosomal-dominant polycystic kidney disease (ADPKD) from 83 PKD1 families enrolled in natural history studies at the University of Colorado between 1985 and 2003 (Cohort A, thick line) and 389 relatives from the same families not evaluated clinically (Cohort B, thin line). The survival distributions were significantly different (P < 0.005). Upper confidence limits of cohort A and lower confidence limits of cohort B are shown as dotted lines. Kidney International 2005 67, 1256-1267DOI: (10.1111/j.1523-1755.2005.00203.x) Copyright © 2005 International Society of Nephrology Terms and Conditions

Figure 2 Frequency distributions of clinical characteristics of 315 subjects with autosomal-dominant polycystic kidney disease (ADPKD) from 83 PKD1 families. Graphs (A) through (F) show data from the subjects' natural history visits, at which time no subject had reached end-stage renal failure (ESRD). (A) Serum creatinine concentration 1.5 ± 1.2, median 1.1, range 0.5 to 8.1 mg/dL. (B) Creatinine clearance 83 ± 39, median 85, range 9 to 186 mL/min/1.73 m2. (C) Renal volume (mean of both kidneys) 671 ± 537, median 509, range 71 to 2651 cm3. (D) Urinary protein excretion 252 ± 393, median 138, range 17 to 3472 mg/24 hours. (E) Martingale residuals for the age at onset of ESRD (or no ESRD) 0 ± 0.4, median 0, range –1.9 to 1.0. (F) Martingale residuals for the age at diagnosis of hypertension (or no hypertension) 0 ± 0.7, median 0, range –4.1 to 1.0. (G) Time between each subject's natural history visit and either reaching ESRD, death without ESRD, or last follow-up without ESRD. Subjects with ESRD 3.3 ± 2.3, median 3.0, range 0 to 10 years; subjects without ESRD 3.6 ± 4.2, median 2.7, range 0 to 17 years. Kidney International 2005 67, 1256-1267DOI: (10.1111/j.1523-1755.2005.00203.x) Copyright © 2005 International Society of Nephrology Terms and Conditions